Table Of Content

Fournal of MEDICAL GENETICS VOLUME 37 - 2000 Editor: Eamonn R Maher Associate Editors: Charis Eng Willie Reardon Guy Van Camp Technical Editor: Clare Henderson Editorial Assistant: Anita Starbuck EDITORIAL L Aaltonen (Finland) D Malkin (Canada) COMMITTEE S E Antonarakis (Switzerland A Munnich (France) J Burn (UR) B Ponder (UR) H Brunner (The Netherlands K A Schneider (USA) D F Callen (Australia) T Strachan (UR) G Evers-Kiebooms (Belgium R Trembath (UR) R J M Gardner (Australia) H Torriello (USA) R J Gorlin (USA) M Warman (USA) A G Knudson Jr (USA) M Zeviani (Italy) C Larsson (Sweden) Editor, E Legius (Belgium) British Medical Fournal APPOINTED BY THE BRITISH MEDICAL ASSOCIATION BRITISH MEDICAL ASSOCIATION TAVISTOCK SQUARE - LONDON WCI1H 9JR VOLUME 37 - CONTENTS No | JANUARY Review articles Friedreich ataxia: an overview MBI tycki, R Williamson, S M Forrest Che molecular genetics of Marfan syndrome and related microfibrillopathies PN Robinson, M Godfrey Original articles Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? W Reardon, A Smith, ¥ W Honour, P Hindmarsh, D Das, G Rumsby, I Nelson, S Malcolm, L Adeés, D Sillence, D Kumar, C DeLozier-Blanchet, S McKee, T Kelly, W “eehan, M Baraitser, R M Winter An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/1 P Lichtner, R Kénig, T Hasegawa, H van Esch, T Meitinger, S Schuffenhauer Prevalence of mitochondrial gene mutations among hearing impaired patients S-J Usami, S AbFe A,kit a, A Namba, H Shinkawa, M Ishi, S I I’ Hoshino, § Ito, K Dot, T Kubo, T Nakagawa, S Komiyama, T Tono, S Komur Prevalent connexin 26 gene B2) mutations in Japanes« Abe, S-I Usami, H Shinkawa, P M Kelley, W F Kimb A search e of somatic mutations in the NF/ gen A M Fohn, M Ruggieri, R Ferner, M Upadi Short reports A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis MIM 148350) K Heathcote, I , N D Carter, M A Patton Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type L Faivre,M le Merrer, A Megarl - , fortier, V Cusin, A MunniP Mcarhote,aux , V ¢ er-Daire Mutational analysis of the tuberous sclerosis gene 7SC2 in patients with pulmonary lymphangioleiomyomatosis A Ast lis, ‘hare, T Carsillo, T Smolarek, K-S Au, H Northrup, E P Henske Cryptic subtelomeric translocations in the 22q13 deletion syndrome V Praphanphoj, B K Goodman, G H Thomas, G V Raymon Letters to the Editor Risk of multisystem disease in isolated ocular angioma (haemangioblastoma) A R Webster, E R Maher, A C Bird, A T Moore Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome OMIM 241410) locus to chromosome 1q42-43 T E Kelly, S Blanton, R Saif, S A Sanjad, N A Sakati Molecular diagnosis is important to confirm suspected pseudoachondroplasia B Newman, D Donnai, M D Briggs Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome EL Wakeling, M P Hitchins, S N Abu-Amero, P Stanier,G E Moore, M A Preece Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTJ) gene in hereditary and sporadic chronic pancreatitis _?-M Chen, B Mercier, M-P Audrezet, C Fere A case of inv dup(8p) with early onset breast cancer M Seltmann, P Harrington, B A J Ponder, L R Willatt, A C Heppell-Parton, H Anton-( Appendiceal carcinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1 D Koorey, N 7 Basha, C Tomaras, } Freiman, L Robson, A Smith NF2 gene deletion in a family with a mild phenotype C Lépez-Corre¥a , Zucman-Rossi, H Brems, G Thomas, E Legius Absence of fragile X syndrome in Nov otia RG Beresford, C Tatlidil, D C Riddell, ¥P Welch, M D Ludman, P E Neumann, W I ? Notice for contributors No 2 FEBRUARY Commentary Of palms, soles, and gum Review article Genetic susceptibility to age related macular degeneration ¥~R W Yates, A T Moore Original articles Haim-Munk syndrome and Papillon-Lefévre syndrome are allelic mutations in cathepsin C TC Hart, P S Hart,M D Michalec, Y Zhang, E Firatli, T E Van Dyke, A Stabholz, A ZlotogorLs Shkapii,ra , WA Soskolne Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation TC Hart, P S Hart, M D Michalec, Y Zhang, M L Marazita, M CooperO, M Yassin, M Nusier, S Walker Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by f sarcoglycan mutations R Barresi, C Di Blasi, T Negri, R Brugnoni, A Vitali, G Felisari, A Salandi, S Daniel, F Cornelio, L Morandi, M Mora Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer K Aktan-Collan, J-P Mecklin, A de la Chapelle, P Peltomaki, A Uutela, H Kaaridinen Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH P Stankiewicz, E Bocian, K fakubéw-Durska, E Obersztyn, E Lato, H Starke, K Mroczek, T Mazurczak A supernumerary marker chromosome originating from two different regions of chromosome 18 B Rothlisberger, K Chrzanoz Short reports 5p I 14 deletion associated with m B Tenenholz, 7 Overhauser 4 microdeletion in 19q13.2 Diamond-Blackfan anaemia G Elinder, O Ekléf, L Gordon, . First description of germline mo S Briault, C LedewiOl , Dubou B Haingu Perspectives Shared decision making and n Letters to the Editor The CAG repeat within th K M Kurian, M A F Mach Deletion and duplication of insertion involving 5(q22q23 aunHt Myac,ki nnor athyroidism, retarded grow lisease reminiscent of Kenn jem duplication with the location in familial a leau, A PeletB, A be, D Vidaud ion of novel alleles at a] mort microsatellite rep gion in th nan NRAMP! gene ter: analysis of allele freq M H ,D¥ H ar ingiomyolipomata and » J P Osborn | geneticists’ attitude n, RS Hou No 3 MARCH 2000 ag Review article Detecting low penetrance Original articles Diagnostic analysis of the Rubinstein rom ¢ I ild be used for microdeletion on and low number of protein truncating mutations F] 1 ( zuwerse, RI Blough,R HG Smagt, R Wa -¥ B van Omn ringen, 7 H Rubi VUeH Breuning 1 analysis in glutaric aciduria tvpe I Z I t , G F Hoffman yicholinesterase K variant is genet i iat vith lzheimer’s disease in Northern 1 § P Mellroy, V L S CrawfordK, B B [cG D Vahidassr, ¥ T La n, i sex based genetic locus heterogeneit type ld t D Paterson, A Pet lel protocol evaluating the introduction of genetic assessn r women with a family history of tcancer J GraKy Br,ain , ,CA ,e2 1 L BranstoEn , ParsoAns ,¢ n,E RobertRs, N , I Lore ,R Mansel, P Harper Clinical genetics in practice Guidelines for a genetic risk based approach t ivising womer! t amily history of breast can DMI »D GR Evans, J Mackay, o» the UK Ca ] tudy Group (UKCFSG Letters to the Editor No evidenceo f germline PTEN mutations in familial| tate MSI st, S M Edwards, R A Hamoudi, D P Dearnaley, A Arde Al ,AM t I M D TeaDr Fe Ea,sto n, M A Knowles, D T Bishop, R A I Mutation analysis of H19 and NAPIL4 (hNAP2) candidate ge nd JGF2 DMR2 in Beckwith-Wiedemann syndrome D Cate! 1 Sma FA F 1 Murrell, W Lam, T Tang, D Munroe, W Retk, P N Sci A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients 7 Wang, M C Bowman, E Hsu, K Wert rhe continuing failure to recognise Alstr6m syndrome and further ice of genetic homogeneity V’ ¥ Deeble,E Roberts, A Jackson, N Ler : : Clinical and radiographic features of a family with hypochondroplasia ov to a novel Asn540Ser mutation in the fibroblast growth factor rec r 3 gene ter, 1 tinck,M Craen, ¥-P Renard, 7 G Leroy, A de Paepe Screening British CADASIL families for mutations in the ITCH3 gen R P F De Lange, F Bolt, E Reid, R da Silva, D F Shaw, D M St Clair Correlation between mutations and age in cystic fit is ina nch Canadian population S R Rivard, C Allard, J-P LeblM Mailotn, Gc Au,bin , F Simard, - le Braekeleer rhe heritability of high myopia: a reanalysis of Goldschmidt’s data ¥A Guggenheim, G Kirov, S A Hodson Progressive neurological deterioration in a child with distal arthrogryposis and whistling face D Lev, M Yanoov, S Weintraub, T Lerman-Sagi Chromosomal duplication of band 10p14 segregating through four generations L Vouillaire, R ¥ M Gardner, C Vaux, A Robertson, R Oertel, H Slater Somatic mosaicism associated with a mild Alport syndrome phenotype K E Plant, E Boye, P M Green, D Vetrie, F A Flinten Notice for contributors No 4 APRIL 2000 Original articles 1m » chromosome 19q_ M Meeks, A Walne, S Spiden, H Simpson, H Mussaffi-Georgy, H D Hamam, E L Fehatd, M Cheehab, M Al-Dabbagh, S Polak-Charcon, H Blau, A O’Rawe, H M Mitchison, R M Ga Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13 K Janssens, R Gershoni-Baruch, E Van Hul, R Brik, N Guatabens, N Migone, L A Verbruggen, S H Ralston, M Bonduelle, L Van Maldergem, F Vanhoenacker, W Van Hu Mutation screening in Rett syndrome pati s F Xiang, S Buervenich, P Nicolao, M E S Bailey, Z Zhang, M Anvret Genetic h yndrome typ localisation to chromosome 5q_S Pieke-Dahl, C G MillePr M, Kelley, L M Astuto,C W RF mers, M B Gorin, W ¥ Kimberling Report of five novel and one recurrent 2A] mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder GR Mortier, M Weis, L Nuytinck, L M King, D ¥ Wilkin, A De Paepe, R S Lachman,D L Ri _DR DH Cohn Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein ptor gene K E Heath, I N M Day, S E Humphries Parental origin and mechanisms of format of cytogenetically recognisable de novo direct and inverted duplications D Korzot, M-} Ma , Basaran, A Baumer, F Binkert, L Brecevic, C Castellan, K Chrzanowska, F Dutly, A Gut 1, S B Karaiiziim, M Krajewska-Walasek, G Luleci, P Miny, M Riegel, S Schuffenhauer, H Seidel, A S An unbalanced submicroscopic trans ation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito BH F Eussen, G Bartalini, L Bakker, P Balestri, C Di Lucca, 7 O Van H H Dau A M W van den Ouweland, C Ris-Stalpers, S Verhoef, D F F Halley, A Foi Clinical and radiological assessment of a family with mild brachydactyly type Al: the usefulness of metacarpophalangeal profiles CM Armour, D E Bulman, A G W Hunter Letters to the Editor Can hair be used to screen for breast cancer? 1 Howell, ¥ G Grossmann, K C Cheung, L Kanbi, D G R Evans, S S Hasnai Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal cancer S Roth, M Johansson, A Loukola, P Peltomaki, H Farvinen, J-P Mecklin, L A Aaltonen Novel mutation in the MYOC gene in primary open angle glaucoma patients .~ PC Vasconcellos, M B Melo, V P Costa, D M L Tsukumo, D S Bassares, S Bordin, S T O Saad, F F Costa hree novel SALLI mutations extend the 1 tional spectrum in Townes-Brocks syndrome _ C Blanck, 7 Kohihase, S Engels, P Burfeind, W E »A Bottani, M S Patel, H Y Kroes, ¥ M Cobben Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA-G shows a severe phenotype M O Kiling, V N Ninis, A Tolun, X Estivill, T Casals, A Savov, E Dagli, F Karakog, M Demirkol, G Hiiner, F Ozkinay, E Demir, ¥ L Seculi, ¥ Pena, C Bousono, } Ferrer-Calvete, C Calvo, G G , | Kremenski Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene _ B Porfirio, I Chiarelli, C Graziano, AM annoni, A Morrone, EZ ammarchi, D Beltran-Va le Bernabé, S R de Cordoba Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy R Savarirayan, R # M Gardner, R D Sinclair, M McDovwell, 7 E Cleaver The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600 PD Turnpenny, R H Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes S Manouvrier-Hanu, R Besson, 1 isin, C Feanpierre, N Kacet, M Cartigny, L Devisme, L Storme, B de Martinville, P Lequier Clinical variability of Stickler syndrome with a COL2A1/ haploinsufficiency mutation: implications for genetic counselling 7 Faber,A Wi pacht, B Zabel, W Gnoinski, A Schinzel, B Steinmann, A Superti-Furga No 5 MAY 2000 Review article The Smith-Lemli-Opitz syndrome RIK , RC M Hennekan Original articles Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers I De Vivo, D M Gertig, igase, S E Hankinson, R O’Brien, F E Speizer, R Parsons, D ¥ Hunter Chromosome 8p alterations in sporadic an °CA2 999del5 linked breast cancer B I Sighjérnsdottir, G Ragnarsson, B A Agnarsson, C Huiping, irkardottir, V Egilsson, S Ingvarsson Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes E R Woodward, Clifford, D Astuti, N A Affara, E R Maher Efficacy of a touchscreen computer based family cancer history questionnaire and subsequent cancer risk assessment ¥ Westman, H Hampel, T Bradley A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families P Dinger, Z Akcéren, E Demir, I Richard, O Sancak, G Kale, §S Ozme, A Karaduman, E Tan, ¥ A Urtizberea, 7 S Beckmann, H Topaloglu Short reports A novel C202F mutation in the connexin26 gene (G7B iS ted with autosomal dominant isolated hearing loss L Morlé,M BozonN, A , P Latour, A Va 1 Pla etP ,Eder y, ¥ God G Lina-Granad Glycine to tryptophan substitution in typ lagen in a patient with type a unique collagen L Nuytinck, T 7 / [ Letters to the Editor Phosphorylase kinase deficient liver PHKG2 mutations (H144Y and L22 Familial Wilms tumour resulting fron constitutional homozygosity K P Silver-Russell syndrome and ring cht G E MooreM, A Preece Variants of STAT6 (signal X-Q Mao, M H Roberts, Y K Izuhara, T Shirakawa No linkage or association , E Trabetti, G Ma rtance of the autosomal re of the candidate gen AC Bird, DPS nce and molecular mech ing Smith-Lemli-Opitz syr Vis Hennekam ucal and molecular cytos yuLative transcription factor a, J Kohihase, C D cutaneous albinism typ W h, N Oiso, T Wada, O Nara Anticipation in progressive diaphys Hereditary neuropathy with liabilin 16;17)(q12;p11.2) interrupting Xi ill, M A Ramos-Arr Book reviews Notices Corrections Notice for contributors Electronic letters Detection of fetal cells in Autosomal translocation ;¢ ru hip,A N Shelling e-phenotype cor No 6 JUNE 2000 ‘ Review article Perfect endings: a review o Original articles Over-representation of PPAR evidence for common low penetran X-P Zhou, WM Smith, O Gimm, P McL Black, A F Yates, C Ens FRAXA and FRAXE: the result N McKechnie, M Pound, A Shi Molecular characterisationo f congenital glaucoma it nsal I is Canadian community towards preventing glaucoma related blindr V Ma } 1, A V Levin, R Klose, M Pr E Heéor Circadian rhythm abnormalitie S-S Park, C D Kashork, L G Shaff Five cases of isolated glycerol kin correlation CA Sargent, A Kidd, Short reports Delineation of a complex karyotypic rearrangement by microd n split foot ¥%W eimer,M Kiechle, U Wied inn, H To» HN Ruhenstroth, « N Arnold lietz syndrome (hypopigmentation/deafness) caused by mutation of MJ7 S D Smith, P M Kelley, 7 B Kenyon, D Hoover Letters to the Editor Fine molecular mapping of the 4p16.3 aneuploidy syndron n four translocation families K Fagan, V Soubjaki, P Donald, G Turner, M Part Investigation of meiotic rearrangements in DGS/VCFS patient th a microdeletion 22q11.2 D Tr W Wiebe, S Uhlhaas, P Schwindt, G Sci Pure trisomy 20p resulting from isochromosome formation and whole arm translocation R U Sid: M Pinson, B Gibbons, S Byatt, E C Svennevik, R ¥ Hastings, D M 1 A SALLI mutation causes a branchio-oto-renal syndrome-like phenoty S Engels, ¥ Kohthase, ¥ McGaughran New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes 7-P Fryns, S Aftimos The mitochondrial genome in Wolfram syndrome T G Barrett, M Scott-Brown, A Seller, A Bednarz, K Poulton, ¥ Poulton Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces SA Lynch, K Hall, S Precious, AO M Wilkie, ¥ A Hurst The psychological impact of a cancer family history questionnaire completed in general practice V Leggatt, # Mackay, TM Marteau, 7 R W Yates Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer Meiser, P Butow, A Barratt, G Suthers, M Smith, A Colley, E Thompson, K Tucker Attitudes of von Hippel-Lindau disease patients towards presymptomatic genetic diagnosis in children and prenatal diagnosis M Levy, S Richard, on behalf of the French VHL Study Group Correction Notice Electronic letters Rapid detection of mirodeletions using fluorescence in situ hybridisation (FISH) on buccal smears A WM Nieuwint, 7 M Van Hagen, Y M Heins, K Madan, L P Ten Kate Mutation analysis of GABRRI and GABRR2 in autosomal recessive retinitis pigmentosa RP25) I Marcos, A Ruiz, C j , S Borrego, G R Cutting, G Antinolo Review article rhe genetics of childhood cataract P ¥ Francis, V Berry, S S Bhattacharya, A T Moore Original articles A clinical study of 57 *n with fetal anticonvulsant syndromes S ¥ Moore, P Turnpenny, A Quinn, S Glover, D F Lloyd, T : tg The ACE | allele is associated with increase k for ruptured intracranial aneurysms M Keramatipour, R S McConnell, P Kirkpatrick, S Tebbs, R A I ng, D C Rubinsztein Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon M C Friihwald,M S O’D io, L F Rush, Reiter, D ¥ Smiraglia, G Wenger, ¥ FC ostello, P S White, R Krahe, G M Brodeur, ( Complementation studies in th 1 class of i1 n error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cb/H) D Watkins, N Matiaszuk, D S Rosenblatt Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia R Thiart,C L Scholtz, ¥ Vergotine,C F Hoogendijk, ¥ N P de Villiers, H Nissen, K BrusgDa Gaaffnrey,d M, S Hoffs, W ¥ H Vermaak, M JK otz Short reports Genitopatellar syndrome: a new condit comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retarda V Cormier-Daire, M Chauvet, S Lyonnet, M Briard, A Munnich, M Le Merrer Maternal uniparental heterodisom) hromosome 14: chromosomal mechanism and clinical follow up D Sanlaville, M C Aubry, Y Dun Mi folen, J Amiel, M P Pinson, S Lyonnet, A Munnich, M Vekemans, N Morichon-Delvallez Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review A Heller, Seidel, A Hiibler, H Starke, V B n, G Senger, M Rocchi, ¥ Wirth, I Chudoba, U Claussen, T Liehr Letters to the Editor Incidence of germline HMLH1/ and’ HA 12 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population [ Ravnik-Glavaé, U Potoénik, D Glavai Does the survival motor neuron protein (5 J) interact with Bcl-2? D D Coovert, T T Le, G E Morris, N T Man,M Kralewski,M Sendt f Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria A Zatkova, H Polakova, L Micutkova, M wik, V Bosak, E Ferakova, J Matusek, V Ferak, L Kadasi Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2. M E Baser, A ¥ Wallace, T Strachan, D G R Evans Many AF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation ¥ Boyne, S Evans, R F Pollitt, ¢ Further evidence for genetic heter ‘ity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA G van Goethem, A Léfgren, ¥-} Martin, C van Broeckhoven Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family G Tiberio, M C Digilio, M Graziani, F T. Prenatal detection of trisomy for the e long arm of chromosome 7 B V Ndah, 7 A Stead, L R Brancazio, M Hummel, S L Weng Cockayne syndrome associated with 5-hydroxyindole acetic acid levels C ¥ Ellaway, A Duggins, V S Fung, 7 W Earl, R Kamath, P G Pa ,.¥A Antony, K N North Unilateral lobar pulmonary agenesis in sit ‘okstuen, A Schinzel Correction Instructions for authors Electronic letters Two novel germline mutations of the retinoblastoma gene ( RB/) that show incomplete penetrance, one splice site and one missense ffer, P Van der Vlies, M Burton, E Verlind, A C Moll, S M Imhof, CHC HM Buys Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients M Montera, N Resta, C Simone, G Guanti, C Marchese, S Civitelli, A Mancini, S Pozzi, L De Salvo, D Bruzzone, A Donadim, L Romio, C Mar Alstrém syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs U Zumsteg, P Y Muller, A R Miserez Evaluation of the HOX11L1 gene as a cand r congenital disorders of intestinal innervation M Costa, M FavM aSer,i, R Cusano, M Sancandi, P Foral l Vartucctello, G Rome T¢ ccherm No 8 AUGUST 2000 age Review article Autosomal dominant sacral agen Ss I nd Original articles Ten years of presymptomatic testi Disease Prediction Consortium Prediction Consortiun RET genotypes comprising spe Hirschsprung disease SB F A WrigGh tAnt,iiol o, C I Identification of four novel s S Viallaumier-Ba rand, B Grandchamt i mapping of a cor ,C Maliszewska, I e of hypermethylation iM D Wheeler, A FISH deletion mapping de B Weiss, M De Rosa, T Ogat Short reports Interstitial deletion in Xp22 wohlke, K Haug, M Fu ters, Monozygotc . Y De Diego Otero, B A Clinical genetics in practice 4 survey of the current clinical fa N E Haites, with BIOMED II pa C M Steel, D Stoppa-Lyor H Letters to the Editor Mutation analysis of the me K Obata, T Matsuishi, Y Yama IO , S EndK Moori,, I K Mutations in the MECP2 gene ymy and trisomy 1q4 E Sala, D ¢ ututional homozyg , E Mateu, M Ber rhe gene for branchio-ocuk I Kennerknecht, W Just, Vi Importance of clinical evaluat verlapping phenotypes Equal expression of ty Cartilage from a patient with me M E Grant, R P Boot-Handf rhe relationship between ne D Du Sart,K Forshaw, ¥ Car Epidemiology of neurofibromato Genetic registers in clinical prac P A Farndon, H Kingston, D ¢ Electronic letters Duplication of medial 15q confi A child with bisatellited, dicen chromosome 15q MI A family with hereditary port win Absence of germline p/6 alterati J Lees, S VerseF Pl Lii,s D, Malki Distal spinal muscular atrophy with voca rd paralysis A-VID is not linked to the MPD2 locus on chromosome 5q31 M McEntag PH Fetal bowel hyperechogenicity may i CFTR allele M ¥ Abramowicz, B D Distribution of CFTR gene mutation E Oumaa, K Kaastk, A Metspalu No 9 SEPTEMBER 2000 Original articles Sensitivity and specificity of clinical criteria for hereditary non-| posis colorectal cancer associated mutations in MSH2 and MLH1_ S Syngal, EA F Eng, RI dner, ¥ E Garber Recurrent germline mutation in MSH2 arises frequently de nov D C Desai, 7 C Lockman, R B Cha X Gao, A PerceseDp Ge R, Evans,M Miyal uen, P Radice, I er, F A Wright, A déde liaa Chat Identification of PTEN mutations in metastatic melanoma specimens F 7 Celebi, I Shendrik, D N Silvers, M Peacocke JAGGED\| expression in human embryos: correlation with the Alagille syndrome phenotype E A Jones, M Clement-Fones, D I Wilson A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. DA Cabezas, R Slaugh, F Abidi, ¥ F Arena, R E Stevenson, C E Schwartz, H A Lubs A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex / ¢ harfe, M Hauschild, T Klopstock, A ¥ M Janssen, P H Heidemann, T Meiting Characterisation of the human GFRa-3 locus and investigation of the gene in Hirschsprung disease C I Onochie, L M Korngut, ¥ B Var ne, S M Myers, D Michaud, L M Mulligan Genetics of club foot in Maori and Pacific people C Chapman, N S Stott, R V Port, R O Nicol Clinical genetics in practice Evidence based medicine in practice ons from a Scottish clinical genetics project H Campbell, N Bradshaw, R Davidson7, Dean,D Goudie, S Ho ry, M Porteous Short reports A novel mutation in the mitochondria . gene in a family with non-syndromic sensorineural hearing impairment T P Hutci \ Parker, I D Young, A C Davis, L ¥ Pulleyn, } Deeble, N ¥ Lench, A F Markham, R F Mueller The ACE gene and Alzheimer’s disease susceptibility Y Narain, A Yip, T Murphy, C Brayne, D Easton, 7 G Evans, ¥ Xuereb, N Cairns,M M I ,RAF ng,D C Rubinsztein Letters to the Editor Constitutional WT] mutations correlate with clini A Takata,H Kikuchi, R Fukuzawa, S Ito, \ nda, F-I Hata Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia A ¥# Marsh, D WelleslDe y, Burge, M Ashton, C E Browne,N R DennisI, K Temple Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations C E BeesE lP Yeounyg, ,A VellodBi, G W Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts T Yamamoto, H Ninomiya, M Matsumoto, Y Ohta, E Nanba,Y Tsutsumi, K Yamakawa, G Millat, M T Vanier, P G PentcheKv Oh,n o Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransfera UGTIA1) gene _ A Iolascon, A Meloni, B Coppola, M C Rosatelli r gene has no effect on plasma cholesterol levels K E Heath, R A Whittail, Absence of germline mutations in M1] [ hosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome without germline PTEN mutations P M Dahia, O Gimm, H Chi, D F A h, P R ReynoldCs E,ng Mosaicism in Alport syndrome and genetic counselli M Bruttini, F Vitelli, ]M eloni, G Rizzari, M D WolGp Meazz,ucc o, M de Ma f Breast hypoplasia and disproportionate short stat n the ear, patella, short stature syndrome: expansion of the phenotype? PA Terhal, M G E M Ausems, Y van Bever, L P ten Kate, P F Dijkstra, G M C Kuijpers Pili torti et canaliculi and agenesis of the teeth: 1 of a new “pure” hair-tooth ectodermal dysplasia in a Norwegian family E Selvaag Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q_ PM Kroisel, E Petek, K Wagner Reduction of the genetic interval for Shoedema-distichiasis to below 2 Mb_ R Bell, G Brice, A H Child, V A Murday, S Mansour, C ¥ Sandy, F F ollin, P Mortimer, D F Callen, K Burnand, S Jeffery Book review Instructions for authors Electronic letters BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease ¥ Plaschke, T Commer, C Facobi, H K Schackert, ¥ Chang-Claude Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy L G D’Cruz, C Baboonian, H E Phillimore, R Taylor, P M Elliott, A Varnava, F Davison, W # McKenna, N D Carter Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay K Kosaki, R Kosaki, W P Robinson, W raigen, L G Shaffer, S Sato, N Matsuo Mapping of the human genes (SLC23A2 and 23A1) coding for vitamin C transporters 1 and 2 SVCT1 and SVCT2) to 5q23 and 20p12, respectively CA Stratakis, S E Taymans, R Daruwala, JS ong, M Levine Deletion (2)(p14p15) in a child with rodevelopmental delay JM Amir, K I Al-Tawil, M M Al-Hathal Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22 G Mirza, K Imaizumi, ¥ Ragouss DiGeorge syndrome with discordant phenotype in monozygotic twins’ G Hillebrand, R Siebert, E Simeoni, R Santer Proximal 10q trisomy: a new case with anal atresia F WF Lam, W K Chan, S T S Lam, W P Chu, N S Kwong Achondroplasia and nail-patella syndrome: the compound phenotype M # Wright, M C Ain, M V Clough, G A Bellus, O Hurko, I Mecintos/ No 10 OCTOBER 2000 Page Review article 729 Channelopathies: ion channel defects linked to heritable clinical disorders R Felix Original articles Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-f3 far RT R D Machado, M W Pauctulo, N V Morgan, M Humbert,G C Elliott, K Ward, M Yacoub, G P Rogers, fewman, L Wheeler, T Higenbottam, J S R Gibbs, 7 Egan, A ‘ 1 Pea ,RA r : Loyd, R C Trembath, WC Nichols ATR-X mutations cause impaired nuclear ition and alter DNA binding properties of the XNP ATR-X protein C CardosYo ,Lu tz, C Migr npe, D Di Mi Mattei, M FontesL, Colleau Divergent outcomes of intrachromosomal 1 mbination o1 man Y chromosome: male infertility and recurrent polymorphism P Bla f 1 M A Jobling, N Affara, M E Hur Mutation analysis of the spastin gene (SPG4) in patient t litary spastic pz aresi 7 ( M E Lusher, C ¥ McDermott, K D Wi K M D Bushby Dipeptidyl carboxypeptidase | apolipoprotein E ¢4 allele as risk Alzheimer pathology K M Mar H Frey, T Lehtimaki [wo translocations of chrom A Lehesjoki, A Voutilainen, Hypothesis [wo common forms of t A Couturier, C Rey-Bert/ Short report FMR3 is a novel gene ass mutations JF Gécz Letters to the Editor The mutation spectrum in Holt-Oram S Spranger, S Lyonnet, D Bonnet, M P C-A Gardin7 De Brroo,k, R Newbu I Hemiplegic cerebral palsy and the factor V Leid tation 7 L Halliday, D Reddil H Ekert,M Ditchfield Analysis of the human tumour necrosis factor-alpha gene promoter polymorphisms in children with bone cancer A Patinio-Garcia, t Pu ) Mod I imaga Low prevalence of germline BRCA/ mutations in early onset t cancer without ¢ history D Ellis, J Greenman, S Hod; f tt W’ Chorley, C PerrKe MtactDe,r n Delineation of a new syndrome: clustering of pylori nd triosis, and breast cancer in tw< families A Liede, T Pal, M Mitch Punctate calcification of the epiphys sceral malformatior 1 craniofacial dysmorphism in a female baby A Slavotinek, H Kingston Unexpected high frequency « novo unbalanced transk ns in patients with Wolf-Hirschhorn syndrome (WHS) D Wi { Kra F Ma BA PA ke, O Re G Gillessen-Kaesbach Mosaicism for a dup(12)(q22q13) in a patient with hypomela fIlto and asymmetry H Schmidt, S Uhrig, G Lederer, } Murken, M R Sp n analphoid supernumerary marker chromosome derived ff romosome 3 ascertained in a fetus with multiple malformations A E Coch ,B Why patients do not attend for their app« men i genet nic L Humphreys, A G W Hunter, A Zimak, A O’Brien, Y Korneluk, M Capp Correction Instructions for authors Electronic letters Geneticasn d deafness: what do fan want? M F Par H M FortnumI, D Young,A C Davts A case of dyschondrosteosis from Roman Xp;Yp translocation inherited from the father in an ", RBM, and TSPY positive true hermaphrodite with oligozoospermia L Jakubowski, A J 1, A Z Helszer, A Baumstark, W Vogel, D Mikiewicz-Syguta, B Kautzewsh MPS II in females: molecular basis of tw D Bozon Partial tetrasomy 21 in a male infant A M Slavotinek, \ 1 FJackson, L Gaunt, A Campbell, 7 Clayton-Smith, J R Korenberg Benign familial infantile convulsions: report of a . family and ifirmation of genetic heterogeneity D Baralle, A M Dearlove, R Beach, C Ffrench-Cor Low frequency of microsatellite instability in BRCA/ mi reast tumours C Vaurs-Barriére, F R Penauli-Llorca, V Laplace-Marieze, N Presneau, CC M Mau 1, M Fiche, A Hardouin, Y-¥ Bignon No 11 NOVEMBER 2000 Review article Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis 7% R Hansford, L M Mulligan Commentary Will the real Cowden syndrome please stand up: revised diagnosti i C Eng Original articles A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22) A R Lafferty, D ¥ Torpy, M Stowasser, S E Taymans, 7 P Lin, P Huggard, R D Gordon,C A Stratakis Characterisation and genetic mapping of a new X linked deafness syndrome DM Martin, F 7 Probst, S A Camper, E M Petty