The American Journal of Human Genetics 2007: Vol 81 Index & Table of Contents

2007·3.4 MB·English

Contents of Volume 81
July 2007
This Month in the journal
Robin E. Williamson
ARTICLES
Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive
Charcot-Marie-Tooth Type 4H
Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cécile Baudot, Irene Boccaccio,
Eliane Chouery, Malika Chaouch, Nora Kassouri, Rosette Jabbour, Djamel Grid, André Mégarbane,
Georg Haase, and Nicolas Lévy
A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population
Fan Liu, Alejandro Arias-Vasquez, Kristel Sleegers, Yurii S$. Aulchenko, Manfred Kayser, Pascual Sanchez-Juan,
Bing-Jian Feng, Aida M. Bertoli-Avella, John van Swieten, Tatiana I. Axenovich, Peter Heutink,
Christine van Broeckhoven, Ben A. Oostra, and Cornelia M. van Duijn
Conversion and Compensatory Evolution of the y-Crystallin Genes and Identification of a Cataractogenic Mutation
That Reverses the Sequence of the Human CRYGD Gene to an Ancestral State
Olga V. Plotnikova, Fyodor A. Kondrashov, Peter K. Vlasov, Anastasia P. Grigorenko, Evgeny K. Ginter, and
Evgeny I. Rogaev
Evidence of Amino Acid Diversity-Enhancing Selection within Humans and among Primates at the Candidate
Sperm-Receptor Gene PKDREJ
David Hamm, Brian S$. Mautz, Mariana F. Wolfner, Charles F. Aquadro, and Willie J. Swanson
identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families
Min Shi, David M. Umbach, and Clarice R. Weinberg
The Nuclear Factor xB-Activator Gene PLEKHGS |s Mutated in a Form of Autosomal Recessive Lower Motor Neuron
Disease with Childhood Onset
Isabelle Maystadt, René RezsOhazy, Martine Barkats, Sandra Duque, Pascal Vannuffel, Sophie Remacle,
Barbara Lambert, Mustapha Najimi, Etienne Sokal, Arnold Munnich, Louis Viollet, and
Christine Verellen-Dumoulin
Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling
Mark O'Driscoll, William B. Dobyns, Johanna M. van Hagen, and Penny A. Jeggo
A New Genetic Disorder in Mitochondrial Fatty Acid 8-Oxidation: ACAD9 Deficiency
M. He, S. L. Rutledge, D. R. Kelly, C. A. Palmer, G. Murdoch, N. Majumder, R. D. Nicholls, Z. Pei,
P. A. Watkins, and J. Vockley
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome-Related Disorders
Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini,
Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini,
Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Y. Fenerci, Raoul C. M. Hennekam, Andrea Kiss,
Melissa M. Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stephane Romano, Carmelo D. Salpietro,
Elliott H. Sherr, Sabrina Signorini, Petter Stromme, Bernard Stuart, Laszlo Sztriha, David H. Viskochil,
Adnan Yuksel, Bruno Dallapiccola, The International JSRD Study Group, Enza Maria Valente, and
Joseph G. Gleeson
Highly Sensitive Method for Genomewide Detection of Allelic Composition in Nonpaired, Primary Tumor
Specimens by Use of Affymetrix Single-Nucleotide—-Polymorphism Genotyping Microarrays
Go Yamamoto, Yasuhito Nannya, Motohiro Kato, Masashi Sanada, Ross L. Levine, Norihiko Kawamata,
Akira Hangaishi, Mineo Kurokawa, Shigeru Chiba, D. Gary Gilliland, H. Phillip Koeffler, and Seishi Ogawa
The American Journal of Human Genetics Volume 81 July 2007 www.ajhg.org
Contents of Volume 81
July 2007
This Month in the journal
Robin E. Williamson
ARTICLES
Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive
Charcot-Marie-Tooth Type 4H
Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cécile Baudot, Irene Boccaccio,
Eliane Chouery, Malika Chaouch, Nora Kassouri, Rosette Jabbour, Djamel Grid, André Mégarbane,
Georg Haase, and Nicolas Lévy
A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population
Fan Liu, Alejandro Arias-Vasquez, Kristel Sleegers, Yurii S$. Aulchenko, Manfred Kayser, Pascual Sanchez-Juan,
Bing-Jian Feng, Aida M. Bertoli-Avella, John van Swieten, Tatiana I. Axenovich, Peter Heutink,
Christine van Broeckhoven, Ben A. Oostra, and Cornelia M. van Duijn
Conversion and Compensatory Evolution of the y-Crystallin Genes and Identification of a Cataractogenic Mutation
That Reverses the Sequence of the Human CRYGD Gene to an Ancestral State
Olga V. Plotnikova, Fyodor A. Kondrashov, Peter K. Vlasov, Anastasia P. Grigorenko, Evgeny K. Ginter, and
Evgeny I. Rogaev
Evidence of Amino Acid Diversity-Enhancing Selection within Humans and among Primates at the Candidate
Sperm-Receptor Gene PKDREJ
David Hamm, Brian S$. Mautz, Mariana F. Wolfner, Charles F. Aquadro, and Willie J. Swanson
identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families
Min Shi, David M. Umbach, and Clarice R. Weinberg
The Nuclear Factor xB-Activator Gene PLEKHGS |s Mutated in a Form of Autosomal Recessive Lower Motor Neuron
Disease with Childhood Onset
Isabelle Maystadt, René RezsOhazy, Martine Barkats, Sandra Duque, Pascal Vannuffel, Sophie Remacle,
Barbara Lambert, Mustapha Najimi, Etienne Sokal, Arnold Munnich, Louis Viollet, and
Christine Verellen-Dumoulin
Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling
Mark O'Driscoll, William B. Dobyns, Johanna M. van Hagen, and Penny A. Jeggo
A New Genetic Disorder in Mitochondrial Fatty Acid 8-Oxidation: ACAD9 Deficiency
M. He, S. L. Rutledge, D. R. Kelly, C. A. Palmer, G. Murdoch, N. Majumder, R. D. Nicholls, Z. Pei,
P. A. Watkins, and J. Vockley
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome-Related Disorders
Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini,
Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini,
Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Y. Fenerci, Raoul C. M. Hennekam, Andrea Kiss,
Melissa M. Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stephane Romano, Carmelo D. Salpietro,
Elliott H. Sherr, Sabrina Signorini, Petter Stromme, Bernard Stuart, Laszlo Sztriha, David H. Viskochil,
Adnan Yuksel, Bruno Dallapiccola, The International JSRD Study Group, Enza Maria Valente, and
Joseph G. Gleeson
Highly Sensitive Method for Genomewide Detection of Allelic Composition in Nonpaired, Primary Tumor
Specimens by Use of Affymetrix Single-Nucleotide—-Polymorphism Genotyping Microarrays
Go Yamamoto, Yasuhito Nannya, Motohiro Kato, Masashi Sanada, Ross L. Levine, Norihiko Kawamata,
Akira Hangaishi, Mineo Kurokawa, Shigeru Chiba, D. Gary Gilliland, H. Phillip Koeffler, and Seishi Ogawa
The American Journal of Human Genetics Volume 81 July 2007 www.ajhg.org
RNA Interference—Mediated Suppression and Replacement of Human Rhodopsin In Vivo
Mary O’Reilly, Arpad Palfi, Naomi Chadderton, Sophia Millington-Ward, Marius Ader, Thérése Cronin,
Thérese Tuohy, Alberto Auricchio, Markus Hildinger, Amanda Tivnan, Niamh McNally, Marian M. Humphries,
Anna-Sophia Kiang, Pete Humphries, Paul F. Kenna, and G. Jane Farrar
The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter
Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A. Minassian, Andrew D. Paterson, Xiao-Qing Liu,
Callum Wilson, Ulla Lahtinen, Anna-Kaisa Anttonen, and Anna-Elina Lehesjoki
REPORTS
Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant
Retinitis Pigmentosa
Frauke Coppieters, Bart P. Leroy, Diane Beysen, Jan Hellemans, Karolien De Bosscher, Guy Haegeman,
Kirsten Robberecht, Wim Wuyts, Paul J. Coucke, and Elfride De Baere
Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor,
Frabin/FGD4
Claudia Stendel, Andreas Roos, Tine Deconinck, Jorge Pereira, Francois Castagner, Axel Niemann,
Janbernd Kirschner, Rudolf Korinthenberg, Uwe-Peter Ketelsen, Esra Battaloglu, Yesim Parman,
Garth Nicholson, Robert Ouvrier, Jiirgen Seeger, Peter De Jonghe, Joachim Weis, Alexander Kriittgen,
Sabine Rudnik-Sché6neborn, Carsten Bergmann, Ueli Suter, Klaus Zerres, Vincent Timmerman,
Jodo B. Relvas, and Jan Senderek
Correlation of Intergenerational Family Sizes Suggests a Genetic Component of Reproductive Fitness
Anna Pluzhnikov, Daniel K. Nolan, Zhigiang Tan, Mary Sara McPeek, and Carole Ober
Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome
Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie-Claude Babron,
Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzales, Eleanor Rattenberry,
Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles,
Marie-Christine Dauge, Joélle Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Francoise Menez,
Anne-Marie Beaufrére, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald,
Arnold Munnich, Stanislas Lyonnet, Marie-Claire Gubler, Emmanuelle Génin, Colin A. Johnson,
Michel Vekemans, Férechté Encha-Razavi, and Tania Attié-Bitach
Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1
Soraya Beiraghi, Swapan K. Nath, Matthew Gaines, Desh D. Mandhyan, David Hutchings, Uppala Ratnamala,
Ken McElreavey, Lucia Bartoloni, Gregory S. Antonarakis, Stylianos E. Antonarakis, and Uppala Radhakrishna
Normal Levels of Wild-Type Mitochondrial DNA Maintain Cytochrome c Oxidase Activity for Two Pathogenic
Mitochondrial DNA Mutations but Not for m.3243A~G
Steve E. Durham, David C. Samuels, Lynsey M. Cree, and Patrick F. Chinnery
ERRATA
A Novel 5TX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries
of a cis-Acting Imprinting Control Element of GNAS
Linglart et al. (May 2005 76:804-814)
Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant
Group of FA-D2 Patients with Severe Phenotype
Kalb et al. (May 2007 80:895-910)
SOCIETY NEWS
ASHG Continues Its Support of DNA Day
Kenna Shaw
ANNOUNCEMENTS
Employment Opportunity; Conference; Calls for Patients
www.ajhg.org The American journal of Human Genetics Volume 81 july 2007
August 2007
This Month in the Journal
Robin E. Williamson
PERSPECTIVES IN HUMAN GENETICS
New Perspectives for the Elucidation of Genetic Disorders
Hans-Hilger Ropers
ARTICLES
A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies
Jon Wakefield
Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA—Haplogroup
Background
Gavin Hudson, Valerio Carelli, Liesbeth Spruijt, Mike Gerards, Catherine Mowbray, Alessandro Achilli,
Angela Pyle, Joanna Elson, Neil Howell, Chiara La Morgia, Maria Lucia Valentino, Kirsi Huoponen,
Marja-Liisa Savontaus, Eeva Nikoskelainen, Alfredo A. Sadun, Solange R. Salomao, Rubens Belfort Jr.,
Philip Griffiths, Patrick Yu Wai Man, Rene F. M. de Coo, Rita Horvath, Massimo Zeviani,
Hubert J. T. Smeets, Antonio Torroni, and Patrick F. Chinnery
Combining Evidence of Natural Selection with Association Analysis Increases Power to Detect
Malaria-Resistance Variants
George Ayodo, Alkes L. Price, Alon Keinan, Arthur Ajwang, Michael F. Otieno, Alloys S. S. Orago,
Nick Patterson, and David Reich
Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1
Ophélia Maertens, Sofie De Schepper, Jo Vandesompele, Hilde Brems, Ine Heyns, Sandra Janssens,
Frank Speleman, Eric Legius, and Ludwine Messiaen
Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance
Paola Prandini, Samuel Deutsch, Robert Lyle, Maryline Gagnebin, Celine Delucinge Vivier,
Mauro Delorenzi, Corinne Gehrig, Patrick Descombes, Stephanie Sherman, Franca Dagna Bricarelli,
Chiara Baldo, Antonio Novelli, Bruno Dallapiccola, and Stylianos E. Antonarakis
Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in
Facioscapulohumeral Muscular Dystrophy
Jannine Clapp, Laura M. Mitchell, Daniel J. Bolland, Judy Fantes, Anne E. Corcoran, Paul J. Scotting,
John A. L. Armour, and Jane E. Hewitt
Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including
Defects of Septation and Valvulogenesis and Cardiomyopathy
Edwin P. Kirk, Margaret Sunde, Mauro W. Costa, Scott A. Rankin, Orit Wolstein, M. Leticia Castro,
Tanya L. Butler, Changbaig Hyun, Guanglan Guo, Robyn Otway, Joel P. Mackay, Leigh B. Waddell,
Andrew D. Cole, Christopher Hayward, Anne Keogh, Peter Macdonald, Lyn Griffiths, Diane Fatkin,
Gary F. Sholler, Aaron M. Zorn, Michael P. Feneley, David S$. Winlaw, and Richard P. Harvey
Mapping of Deletion and Translocation Breakpoints in 1q44 implicates the Serine/Threonine Kinase AKT3 in
Postnatal Microcephaly and Agenesis of the Corpus Callosum
Elena Boland, Jill Clayton-Smith, Victoria G. Woo, Shane McKee, Forbes D. C. Manson, Livija Medne,
Elaine Zackai, Eric A. Swanson, David Fitzpatrick, Kathleen J. Millen, Elliott H. Sherr,
William B. Dobyns, and Graeme C. M. Black
Bayesian Mapping of Quantitative Trait Loci for Multiple Complex Traits with the Use of Variance
Components
Jianfeng Liu, Yongjun Liu, Xiaogang Liu, and Hong-Wen Deng
The American Journal of Human Genetics Volume 81 August 2007 www.ajhg.org
Case-Control Association Testing with Related Individuals: A More Powerful Quasi-Likelihood Score Test
Timothy Thornton and Mary Sara McPeek
Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium
Jukka T. Salonen, Pekka Uimari, Juha-Matti Aalto, Mia Pirskanen, Jari Kaikkonen, Boryana Todorova,
Jelena Hypp6nen, Veli-Pekka Korhonen, Janne Asikainen, Christopher Devine, Tomi-Pekka Tuomainen,
Jan Luedemann, Matthias Nauck, Wolfgang Kerner, Richard H. Stephens, John P. New, William E. Ollier,
J. Martin Gibson, Antony Payton, Michael A. Horan, Neil Pendleton, Walt Mahoney, David Meyre,
Jerome Delplanque, Philippe Froguel, Oren Luzzatto, Benjamin Yakir, and Ariel Darvasi
Sequence-Based Prioritization of Nonsynonymous Single-Nucleotide Polymorphisms for the Study of Disease
Mutations
Rui Jiang, Hua Yang, Lingi Zhou, C.-C. Jay Kuo, Fengzhu Sun, and Ting Chen
REPORTS
A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy
with Suppression-Burst Pattern (Ohtahara Syndrome)
Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, Hideaki Shiraishi, Yuki Ueda, Manami Akasaka,
Jun Tohyama, Noriyuki Akasaka, and Kiyoshi Hayasaka
Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly
Michael Field, Patrick S$. Tarpey, Raffaella Smith, Sarah Edkins, Sarah O’Meara, Claire Stevens,
Calli Tofts, Jon Teague, Adam Butler, Ed Dicks, Syd Barthorpe, Gemma Buck, Jennifer Cole,
Kristian Gray, Kelly Halliday, Katy Hills, Andrew Jenkinson, David Jones, Andrew Menzies,
Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small,
Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Richard Wooster, Jenny Moon, Ying Luo,
Helen Hughes, Marie Shaw, Kathryn L. Friend, Mark Corbett, Gillian Turner, Michael Partington,
John Mulley, Martin Bobrow, Charles Schwartz, Roger Stevenson, Jozef Gecz, Michael R. Stratton,
P. Andrew Futreal, and F. Lucy Raymond
Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations
with Opposite Functional Effects
Sian Ellard, Sarah E. Flanagan, Christophe A. Girard, Ann-Marie Patch, Lorna W. Harries,
Andrew Parrish, Emma L. Edghill, Deborah J. G. Mackay, Peter Proks, Kenju Shimomura,
Holger Haberland, Dennis J. Carson, Julian P. H. Shield, Andrew T. Hattersley, and Frances M. Ashcroft
Deficiency of the a Subunit of Succinate-Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with
Mitochondrial DNA Depletion
Elsebet Ostergaard, Ernst Christensen, Elisabeth Kristensen, Bodil Mogensen, Morten Duno,
Eric A. Shoubridge, and Flemming Wibrand
A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein
Antagonist NOGGIN
K. Lehmann, P. Seemann, F. Silan, T. O. Goecke, S. Irgang, K. W. Kjaer, S. Kjaergaard, M. J. Mahoney,
S. Morlot, C. Reissner, B. Kerr, A. O. M. Wilkie, and S$. Mundlos
Enriching the Analysis of Genomewide Association Studies with Hierarchical Modeling
Gary K. Chen and John S. Witte
Human microRNA-155 on Chromosome 21 Differentially Interacts with Its Polymorphic Target in the AGTRI
3’ Untranslated Region: A Mechanism for Functional Single-Nucleotide Polymorphisms Related to
Phenotypes
Praveen Sethupathy, Christelle Borel, Maryline Gagnebin, Gregory R. Grant, Samuel Deutsch,
Terry S. Elton, Artemis G. Hatzigeorgiou, and Stylianos E. Antonarakis
LETTERS TO THE EDITOR
Copy-Number Variations and Human Disease
Robert A. Hegele
www.ajhg.org The American journal of Human Genetics Volume 81 August 2007
Reply to Dr. Robert A. Hegele
Kendy K. Wong, Ronald J. deLeeuw, Carolyn J. Brown, and Wan L. Lam
The TAF1/DYT3 Multiple Transcript System in X-Linked Dystonia-Parkinsonism
Ulrich Miiller, Thilo Herzfeld, and Dagmar Nolte
TAF1 as the Most Plausible Disease Gene for XDP/DYT3
Gen Tamiya, Satoshi Makino, and Ryuji Kaji
Numbers of Copy-Number Variations and False-Negative Rates Will Be Underestimated If We Do Not
Account for the Dependence between Repeated Experiments
Andy G. Lynch, John C. Marioni, and Simon Tavareé
Reply to Lynch et al.
Ronald J. deLeeuw, Kendy K. Wong, Raymond T. Ng, and Wan L. Lam
SOCIETY NEWS
Looking Back; Moving Forward
Joann Boughman, Ph.D.
ANNOUNCEMENTS
Employment Opportunities; Symposium; Meeting; Fellowship
September 2007
This Month in the Journal
Robin E. Williamson
ARTICLES
Identification of Genetic Variants Contributing to Cisplatin-induced Cytotoxicity by Use of a Genomewide
Approach
R. Stephanie Huang, Shiwei Duan, Sunita J. Shukla, Emily O. Kistner, Tyson A. Clark, Tina X. Chen,
Anthony C. Schweitzer, John E. Blume, and M. Eileen Dolan
Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-/ Mouse: A Potential
Therapy for Inherited Neuropathy
Mehrdad Khajavi, Kensuke Shiga, Wojciech Wiszniewski, Feng He, Chad A. Shaw, Jiong Yan,
Theodore G. Wensel, G. Jackson Snipes, and James R. Lupski
Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome
or Related Phenotypes and FBN7 Mutations: An International Study
L. Faivre, G. Collod-Beroud, B. L. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini,
K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, N. Marziliano, H. C. Dietz, D. Halliday,
C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Muti, H. Plauchu, P. N. Robinson, L. C. Adés, A. Biggin,
B. Benetts, M. Brett, K. J. Holman, J. De Backer, P. Coucke, U. Francke, A. De Paepe, G. Jondeau, and
C. Boileau
Physical Exercise-Induced Hypoglycemia Caused by Failed Silencing of Monocarboxylate Transporter 1
in Pancreatic 6 Cells
Timo Otonkoski, Hong Jiao, Nina Kaminen-Ahola, Isabel Tapia-Paez, Mohammed S$. Ullah,
Laura E. Parton, Frans Schuit, Roel Quintens, Ilkka Sipila, Ertan Mayatepek, Thomas Meissner,
Andrew P. Halestrap, Guy A. Rutter, and Juha Kere
The American Journal of Human Genetics Volume 81 September 2007 www.ajhg.org
Classification of Human Chromosome 21 Gene-Expression Variations in Down Syndrome: Impact on Disease
Phenotypes
E. Ait Yahya-Graison, J. Aubert, L. Dauphinot, I. Rivals, M. Prieur, G. Golfier, J. Rossier, L. Personnaz,
N. Créau, H. Bléhaut, S. Robin, J. M. Delabar, and M.-C. Potier
DLXS and DLX6 Expression Is Biallelic and Not Modulated by MeCP2 Deficiency
Birgitt Schtile, Hong Hua Li, Claudia Fisch-Kohl, Carolin Purmann, and Uta Francke
Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
Arjan P. M. de Brouwer, Kelly L. Williams, John A. Duley, André B. P. van Kuilenburg,
Sander B. Nabuurs, Michael Egmont-Petersen, Dorien Lugtenberg, Lida Zoetekouw,
Martijn J. G. Banning, Melissa Roeffen, Ben C. J. Hamel, Linda Weaving, Robert A. Ouvrier,
Jennifer A. Donald, Ron A. Wevers, John Christodoulou, and Hans van Bokhoven
Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia—
Anauxetic Dysplasia Spectrum
Christian T. Thiel, Geert Mortier, Ilkka Kaitila, André Reis, and Anita Rauch
Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in P/PSK1C, Which Encodes PIPKIy
of the Phophatidylinsitol Pathway
Ginat Narkis, Rivka Ofir, Daniella Landau, Esther Manor, Micha Volokita, Relly Hershkowitz,
Khalil Elbedour, and Ohad S. Birk
Flexible Design for Following Up Positive Findings
Kai Yu, Nilanjan Chatterjee, William Wheeler, Qizhai Li, Sophia Wang, Nathaniel Rothman, and
Sholom Wacholder
REPORTS
Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical
for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss
and Optic Neuropathy (CMTXS5)
Hee-Jin Kim, Kwang-Min Sohn, Michael E. Shy, Karen M. Krajewski, Miok Hwang, June-Hee Park,
Sue-Yon Jang, Hong-Hee Won, Byung-Ok Choi, Sung Hwa Hong, Byoung-jJoon Kim, Yeon-Lim Suh,
Chang-Seok Ki, Soo-Youn Lee, Sun-Hee Kim, and Jong-Won Kim
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A. R. Ferreira, David Bender,
Julian Maller, Pamela Sklar, Paul I. W. de Bakker, Mark J. Daly, and Pak C. Sham
NOBOX Homeobox Mutation Causes Premature Ovarian Failure
Yingying Qin, Youngsok Choi, Han Zhao, Joe Leigh Simpson, Zi-Jiang Chen, and Aleksandar Rajkovic
The Genetics of Congenital Amusia (Tone Deafness): A Family-Aggregation Study
Isabelle Peretz, Stephanie Cummings, and Marie-Pierre Dubé
Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3),
a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway
Ginat Narkis, Rivka Ofir, Esther Manor, Daniella Landau, Khalil Elbedour, and Ohad S. Birk
CHMP4B, a Novel Gene for Autosomal Dominant Cataracts Linked to Chromosome 20q
Alan Shiels, Thomas M. Bennett, Harry L. $. Knopf, Koki Yamada, Koh-ichiro Yoshiura, Norio Niikawa,
Soomin Shim, and Phyllis 1. Hanson
Genomewide Weighted Hypothesis Testing in Family-Based Association Studies, with an Application
to a 100K Scan
luliana lonita-Laza, Matthew B. McQueen, Nan M. Laird, and Christoph Lange
‘
www.ajhg.org The American journal of Human Genetics Volume 81 September 2007
Evidence of Still-Ongoing Convergence Evolution of the Lactase Persistence T_,,.,. Alleles in Humans
Nabil Sabri Enattah, Aimee Trudeau, Ville Pimenoff, Luigi Maiuri, Salvatore Auricchio, Luigi Greco,
Mauro Rossi, Michael Lentze, J. K. Seo, Soheila Rahgozar, Insaf Khalil, Michael Alifrangis,
Sirajedin Natah, Leif Groop, Nael Shaat, Andrew Kozlov, Galina Verschubskaya, David Comas,
Kazima Bulayeva, S$. Qasim Mehdi, Joseph D. Terwilliger, Timo Sahi, Erkki Savilahti, Markus Perola,
Antti Sajantila, Irma Jarvela, and Leena Peltonen
Recent Genetic Selection in the Ancestral Admixture of Puerto Ricans
Hua Tang, Shweta Choudhry, Rui Mei, Martin Morgan, William Rodriguez-Cintron,
Esteban Gonzalez Burchard, and Neil J. Risch
ERRATA
Dent Disease with Mutations in OCRL7
Hoopes et al. (February 2005 76:260-267)
Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement
of Vestibular Aqueduct (DFNB4)
Yang et al. June 2007 80:1055-1063)
SOCIETY NEWS —
ASHG Statement on Direct-to-Consumer Genetic Testing in the United States
Kathy Hudson, Gail Javitt, Wylie Burke, and Peter Byers, with the ASHG Social Issues Committee
ANNOUNCEMENTS
Employment Opportunities; Call for Patients; Meeting; Fellowship; Conference
October 2007
i This Month in the Journal
Robin E. Williamson
2006 Cotterman Award Winners
2006 ASHG PRESIDENTIAL ADDRESS |
Our Society and the Scientist-Citizen
Stephen T. Warren
2006 WILLIAM ALLAN AWARD ADDRESSES
Introductory Speech for Dorothy Warburton
Patricia A. Jacobs
Having It All
Dorothy Warburton
2006 ASHG AWARD FOR EXCELLENCE IN HUMAN GENETICS EDUCATION
Introductory Speech for Roberta A. Pagon
Kurt Hirschhorn
The American Journal of Human Genetics Volume 81 October 2007 www.ajhg.org
Genetests: Integrating Genetic Services into Patient Care
Roberta A. Pagon
2006 CURT STERN AWARD ADDRESS
introductory Speech for Hal Dietz
Victor A. McKusick
Marfan Syndrome: From Molecules to Medicines
Harry C. Dietz
2006 ASHG LEADERSHIP AWARD
introductory Speech for David L. Rimoin
Michael Kaback
A Half Century of Medical Genetics—Where Do We Go from Here?
David L. Rimoin
ARTICLES
A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2
Sami Amr, Cindy Heisey, Min Zhang, Xia-Juan Xia, Kathryn H. Shows, Kamel Ajlouni, Arti Pandya,
Leslie S. Satin, Hatem El-Shanti, and Rita Shiang
Simultaneous Discovery and Testing of Deletions for Disease Association in SNP Genotyping Studies
Jared R. Kohler and David J. Cutler
TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation,
and Transcriptional Repression
Artemisia M. Andreou, Erwin Pauws, Marius C. Jones, Manvendra K. Singh, Markus Bussen,
Kit Doudney, Gudrun E. Moore, Andreas Kispert, Jan J. Brosens, and Philip Stanier
Clinical and Molecular Phenotype of Aicardi-Goutiéres Syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, Claire F. Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch,
Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann,
Enrico Bertini, Roberta Biancheri, Edward M. Blair, Nenad Blau, David T. Bonthron, Tracy Briggs,
Louise A. Brueton, Han G. Brunner, Christopher J. Burke, lan M. Carr, Daniel R. Carvalho, Kate E. Chandler,
Hans-Jiirgen Christen, Peter C. Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean,
Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G. M. Frints,
Angels Garcia-Cazorla, Blanca Gener, Cyril Goizet, Francoise Goutiéres, Andrew J. Green, Agnés Guét,
Ben C. J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. Hennekam, Marie Husson, Andrew P. Jackson,
Rasieka Jayatunga, Yong-Hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen M. Kingston, Joerg Klepper,
Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, Wilfried Kratzer, Didier Lacombe, Lieven Lagae,
Pierre Georges Landrieu, Giovanni Lanzi, Andrea Leitch, Ming J. Lim, John H. Livingston,
Charles M. Lourenco, E. G. Hermione Lyall, Sally A. Lynch, Michael J. Lyons, Daphna Marom,
John P. McClure, Robert McWilliam, Serge B. Melancon, Leena D. Mewasingh, Marie-Laure Moutard,
Ken K. Nischal, John R. Ostergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers,
Dominique Roland, Elisabeth M. Rosser, Kevin Rostasy, Agathe Roubertie, Amparo Sanchis,
Raphael Schiffmann, Sabine Scholl-Biirgi, Sunita Seal, Stavit A. Shalev, C. Sierra Corcoles, Gyan P. Sinha,
Doriette Soler, Ronen Spiegel, John B. P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till,
John L. Tolmie, Pam Tomlin, Federica Vagnarelli, Enza Maria Valente, Rudy N. A. Van Coster,
Nathalie Van der Aa, Adeline Vanderver, Johannes S. H. Vles, Thomas Voit, Evangeline Wassmer,
Bernhard Weschke, Margo L. Whiteford, Michel A. A. Willemsen, Andreas Zankl, Sameer M. Zuberi,
Simona Orcesi, Elisa Fazzi, Pierre Lebon, and Yanick J. Crow
Simultaneously Correcting for Population Stratification and for Genotyping Error in Case-Control Association
Studies
K. EF. Cheng and W. J. Lin
www.ajhg.org The American journal of Human Genetics Volume 81 October 2007
A Chromosome 11q Quantitative-Trait Locus Influences Change of Blood-Pressure Measurements over Time
in Mexican Americans of the San Antonio Family Heart Study
Sue Rutherford, Guowen Cai, Juan C. Lopez-Alvarenga, Jack W. Kent Jr., V. Saroja Voruganti,
J. Michael Proffitt, Joanne E. Curran, Mathew P. Johnson, Thomas D. Dyer, Jeremy B. Jowett,
Raul A. Bastarrachea, Larry D. Atwood, Harald H. H. Goring, Jean W. MacCluer, Eric K. Moses,
John Blangero, Anthony G. Comuzzie, and Shelley A. Cole
Cowden Syndrome-Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein
Translation
Rosemary E. Teresi, Kevin M. Zbuk, Marcus G. Pezzolesi, Kristin A. Waite, and Charis Eng
Copy-Number Variations Measured by Single-Nucleotide-Polymorphism Oligonucleotide Arrays in Patients
with Mental Retardation
Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz-Depiereux, Bernd Kazmierczak,
Michaela Nathrath, Dagmar Wahl, Babett Heye, Dieter Glaser, Volkmar Liebscher,
Thomas Meitinger, and Tim M. Strom
An LRP8 Variant Is Associated with Familial and Premature Coronary Artery Disease and Myocardial
Infarction
Gong-Qing Shen, Lin Li, Domenico Girelli, Sara B. Seidelmann, Shaogi Rao, Chun Fan, Jeong Euy Park,
Quansheng Xi, Jing Li, Ying Hu, Oliviero Olivieri, Kandice Marchant, John Barnard, Roberto Corrocher,
Robert Elston, June Cassano, Susan Henderson, Stanley L. Hazen, Edward F. Plow, Eric J. Topol, and
Qing K. Wang
REPORTS
A Defect in the lonotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive
Mental Retardation
Mohammad Mahdi Motazacker, Benjamin Rainer Rost, Tim Hucho, Masoud Garshasbi, Kimia Kahrizi,
Reinhard Ullmann, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saeid Hosseini Amini,
Chandan Goswami, Andreas Tzschach, Lars Riff Jensen, Dietmar Schmitz, Hans Hilger Ropers,
Hossein Najmabadi, and Andreas Walter Kuss
Common Variants in the BMP2, BMP4, and H/V Genes of the Hepcidin Regulation Pathway Modulate HFE
Hemochromatosis Penetrance
Jacqueline Milet, Valerie Déhais, Catherine Bourgain, Anne Marie Jouanolle, Annick Mosser,
Michele Perrin, Jeff Morcet, Pierre Brissot, Véronique David, Yves Deugnier, and Jean Mosser
A Bayesian Approach to Copy-Number-Polymorphism Analysis in Nuclear Pedigrees
Konstantina Kosta, lan Sabroe, Jonathan G6ke, Robert J. Nibbs, John Tsanakas, Moira K. Whyte, and
M. Dawn Teare
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
Anika H. D. M. Dam, Isabelle Koscinski, Jan A. M. Kremer, Celine Moutou, Anne-Sophie Jaeger,
Astrid R. Oudakker, Herman Tournaye, Nicolas Charlet, Clotilde Lagier-Tourenne,
Hans van Bokhoven, and Stéphane Viville
Mutation in WNT1O0A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-
dermal Dysplasia
Lynn Adaimy, Eliane Chouery, Hala Mégarbané, Salman Mroueh, Valérie Delague, Elsa Nicolas,
Hanen Belguith, Philippe de Mazancourt, and André Mégarbane
Allele-Specific Targeting of microRNAs to HLA-G and Risk of Asthma
Zheng Tan, Glenn Randall, Jihua Fan, Blanca Camoretti-Mercado, Rebecca Brockman-Schneider, Lin Pan,
Julian Solway, James E. Gern, Robert F. Lemanske, Jr., Dan Nicolae, and Carole Ober
Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz
Trigonocephaly) Syndrome
Tadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, Yoshio Makita, Nobuhiko Okamoto,
Hiroki Maehara, Ichiro Owan, Fuminori Kanaya, Yoshiaki Kubota, Yuichi Oike, Toshiyuki Yamamoto,
Kenji Kurosawa, Yoshimitsu Fukushima, Axel Bohring, John M. Opitz, Ko-ichiro Yoshiura,
Norio Niikawa, and Kenji Naritomi
The American Journal of Human Genetics Volume 81 October 2007 www.ajhg.org