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Volume 86(2);  February 12, 2010
Editors' Corner
This Month in The Journal
Kathryn D. Bungartz and Robin E. Williamson
Am J Hum Genet. 2010 February 12; 86(2): 103–104. doi: 10.1016/j.ajhg.2010.01.018.
PMCID: PMC2820175
This Month in Genetics
Kathryn B. Garber
Am J Hum Genet. 2010 February 12; 86(2): 105–107. doi: 10.1016/j.ajhg.2010.01.019.
PMCID: PMC2820180
Book Review
Genetic Dilemmas and the Right to an Open Future
Annelien Bredenoord
Am J Hum Genet. 2010 February 12; 86(2): 108. doi: 10.1016/j.ajhg.2010.01.004.
PMCID: PMC2820191
Commentary
Mapping Allele-Specific DNA Methylation: A New Tool for Maximizing Information from GWAS
Benjamin Tycko
Am J Hum Genet. 2010 February 12; 86(2): 109–112. doi: 10.1016/j.ajhg.2010.01.021.
PMCID: PMC2820186
Articles
Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability
Dina Ruano, Gonçalo R. Abecasis, Beate Glaser, Esther S. Lips, L. Niels Cornelisse, Arthur P.H. de Jong, David M. Evans, George Davey Smith, Nicolas J. Timpson, August B. Smit, Peter Heutink, Matthijs Verhage, and Danielle Posthuma
Am J Hum Genet. 2010 February 12; 86(2): 113–125. doi: 10.1016/j.ajhg.2009.12.006.
PMCID: PMC2820181
A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
Eva-Lena Stattin, Fredrik Wiklund, Karin Lindblom, Patrik Önnerfjord, Björn-Anders Jonsson, Yelverton Tegner, Takako Sasaki, André Struglics, Stefan Lohmander, Niklas Dahl, Dick Heinegård, and Anders Aspberg
Am J Hum Genet. 2010 February 12; 86(2): 126–137. doi: 10.1016/j.ajhg.2009.12.018.
PMCID: PMC2820178
Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment
Margit Schraders, Kwanghyuk Lee, Jaap Oostrik, Patrick L.M. Huygen, Ghazanfar Ali, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, Sulman Basit, Muhammad Ansar, Cor W.R.J. Cremers, Henricus P.M. Kunst, Wasim Ahmad, Ronald J.C. Admiraal, Suzanne M. Leal, and Hannie Kremer
Am J Hum Genet. 2010 February 12; 86(2): 138–147. doi: 10.1016/j.ajhg.2009.12.017.
PMCID: PMC2820176
Mutations in Grxcr1 Are The Basis for Inner Ear Dysfunction in the Pirouette Mouse
Hana Odeh, Kristina L. Hunker, Inna A. Belyantseva, Hela Azaiez, Matthew R. Avenarius, Lili Zheng, Linda M. Peters, Leona H. Gagnon, Nobuko Hagiwara, Michael J. Skynner, Murray H. Brilliant, Nicholas D. Allen, Saima Riazuddin, Kenneth R. Johnson, Yehoash Raphael, Hossein Najmabadi, Thomas B. Friedman, James R. Bartles, Richard J.H. Smith, and David C. Kohrman
Am J Hum Genet. 2010 February 12; 86(2): 148–160. doi: 10.1016/j.ajhg.2010.01.016.
PMCID: PMC2820167
The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans
Michael P. Donnelly, Peristera Paschou, Elena Grigorenko, David Gurwitz, Syed Qasim Mehdi, Sylvester L.B. Kajuna, Csaba Barta, Selemani Kungulilo, N.J. Karoma, Ru-Band Lu, Olga V. Zhukova, Jong-Jin Kim, David Comas, Marcello Siniscalco, Maria New, Peining Li, Hui Li, Vangelis G. Manolopoulos, William C. Speed, Haseena Rajeevan, Andrew J. Pakstis, Judith R. Kidd, and Kenneth K. Kidd
Am J Hum Genet. 2010 February 12; 86(2): 161–171. doi: 10.1016/j.ajhg.2010.01.007.
PMCID: PMC2820164
ROADTRIPS: Case-Control Association Testing with Partially or Completely Unknown Population and Pedigree Structure
Timothy Thornton and Mary Sara McPeek
Am J Hum Genet. 2010 February 12; 86(2): 172–184. doi: 10.1016/j.ajhg.2010.01.001.
PMCID: PMC2820184
Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans-Hilger Ropers, Andreas Tzschach, Vera Kalscheuer, Barbara Oehl-Jaschkowitz, Cindy Skinner, Charles E. Schwartz, Jozef Gecz, Hilde Van Esch, Martine Raynaud, Jamel Chelly, Arjan P.M. de Brouwer, Daniela Toniolo, and Patrizia D'Adamo
Am J Hum Genet. 2010 February 12; 86(2): 185–195. doi: 10.1016/j.ajhg.2010.01.011.
PMCID: PMC2820185
Allelic Skewing of DNA Methylation Is Widespread across the Genome
Leonard C. Schalkwyk, Emma L. Meaburn, Rebecca Smith, Emma L. Dempster, Aaron R. Jeffries, Matthew N. Davies, Robert Plomin, and Jonathan Mill
Am J Hum Genet. 2010 February 12; 86(2): 196–212. doi: 10.1016/j.ajhg.2010.01.014.
PMCID: PMC2820163
Reports
Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies
Véronique Bolduc, Gareth Marlow, Kym M. Boycott, Khalil Saleki, Hiroshi Inoue, Johan Kroon, Mitsuo Itakura, Yves Robitaille, Lucie Parent, Frank Baas, Kuniko Mizuta, Nobuyuki Kamata, Isabelle Richard, Wim H.J.P. Linssen, Ibrahim Mahjneh, Marianne de Visser, Rumaisa Bashir, and Bernard Brais
Am J Hum Genet. 2010 February 12; 86(2): 213–221. doi: 10.1016/j.ajhg.2009.12.013.
PMCID: PMC2820170
Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Catherine Clinton, Hal E. Schneider, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Robert J. Arceci, Jason E. Farrar, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, and Hanna T. Gazda
Am J Hum Genet. 2010 February 12; 86(2): 222–228. doi: 10.1016/j.ajhg.2009.12.015.
PMCID: PMC2820177
Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies
Annie W.C. Kung, Su-Mei Xiao, Stacey Cherny, Gloria H.Y. Li, Yi Gao, Gloria Tso, Kam S. Lau, Keith D.K. Luk, Jian-min Liu, Bin Cui, Min-Jia Zhang, Zhen-lin Zhang, Jin-wei He, Hua Yue, Wia-bo Xia, Lian-mei Luo, Shu-li He, Douglas P. Kiel, David Karasik, Yi-Hsiang Hsu, L. Adrienne Cupples, Serkalem Demissie, Unnur Styrkarsdottir, Bjarni V. Halldorsson, Gunnar Sigurdsson, Unnur Thorsteinsdottir, Kari Stefansson, J. Brent Richards, Guangju Zhai, Nicole Soranzo, Ana Valdes, Tim D. Spector, and Pak C. Sham
Am J Hum Genet. 2010 February 12; 86(2): 229–239. doi: 10.1016/j.ajhg.2009.12.014.
PMCID: PMC2820171
Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
Konstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, C. Erik van Nouhuys, F. Nienke Boonstra, Ellen A.W. Blokland, Peer Arts, Nienke Wieskamp, Tim M. Strom, Carmen Ayuso, Mauk A.D. Tilanus, Sanne Bouwhuis, Arijit Mukhopadhyay, Hans Scheffer, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, and Rob W.J. Collin
Am J Hum Genet. 2010 February 12; 86(2): 240–247. doi: 10.1016/j.ajhg.2009.12.016.
PMCID: PMC2820179
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
James A. Poulter, Manir Ali, David F. Gilmour, Aine Rice, Hiroyuki Kondo, Kenshi Hayashi, David A. Mackey, Lisa S. Kearns, Jonathan B. Ruddle, Jamie E. Craig, Eric A. Pierce, Louise M. Downey, Moin D. Mohamed, Alexander F. Markham, Chris F. Inglehearn, and Carmel Toomes
Am J Hum Genet. 2010 February 12; 86(2): 248–253. doi: 10.1016/j.ajhg.2010.01.012.
PMCID: PMC2820188
Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome
Zafar Iqbal, Pilar Cejudo-Martin, Arjan de Brouwer, Bert van der Zwaag, Pilar Ruiz-Lozano, M. Cecilia Scimia, James D. Lindsey, Robert Weinreb, Beate Albrecht, Andre Megarbane, Yasemin Alanay, Ziva Ben-Neriah, Mariangela Amenduni, Rosangela Artuso, Joris A. Veltman, Ellen van Beusekom, Astrid Oudakker, José Luis Millán, Raoul Hennekam, Ben Hamel, Sara A. Courtneidge, and Hans van Bokhoven
Am J Hum Genet. 2010 February 12; 86(2): 254–261. doi: 10.1016/j.ajhg.2010.01.009.
PMCID: PMC2820172
Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1
Petra van der Lelij, Krystyna H. Chrzanowska, Barbara C. Godthelp, Martin A. Rooimans, Anneke B. Oostra, Markus Stumm, Małgorzata Z. Zdzienicka, Hans Joenje, and Johan P. de Winter
Am J Hum Genet. 2010 February 12; 86(2): 262–266. doi: 10.1016/j.ajhg.2010.01.008.
PMCID: PMC2820174
Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
Bettina Lorenz-Depiereux, Dirk Schnabel, Dov Tiosano, Gabriele Häusler, and Tim M. Strom
Am J Hum Genet. 2010 February 12; 86(2): 267–272. doi: 10.1016/j.ajhg.2010.01.006.
PMCID: PMC2820166
Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene
Varda Levy-Litan, Eli Hershkovitz, Luba Avizov, Neta Leventhal, Dani Bercovich, Vered Chalifa-Caspi, Esther Manor, Sophia Buriakovsky, Yair Hadad, James Goding, and Ruti Parvari
Am J Hum Genet. 2010 February 12; 86(2): 273–278. doi: 10.1016/j.ajhg.2010.01.010.
PMCID: PMC2820183
Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome
Reinhard Schneppenheim, Michael C. Frühwald, Stefan Gesk, Martin Hasselblatt, Astrid Jeibmann, Uwe Kordes, Markus Kreuz, Ivo Leuschner, Jose Ignacio Martin Subero, Tobias Obser, Florian Oyen, Inga Vater, and Reiner Siebert
Am J Hum Genet. 2010 February 12; 86(2): 279–284. doi: 10.1016/j.ajhg.2010.01.013.
PMCID: PMC2820190
Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene
Eveliina Jakkula, Virpi Leppä, Anna-Maija Sulonen, Teppo Varilo, Suvi Kallio, Anu Kemppinen, Shaun Purcell, Keijo Koivisto, Pentti Tienari, Marja-Liisa Sumelahti, Irina Elovaara, Tuula Pirttilä, Mauri Reunanen, Arpo Aromaa, Annette Bang Oturai, Helle Bach Søndergaard, Hanne F. Harbo, Inger-Lise Mero, Stacey B. Gabriel, Daniel B. Mirel, Stephen L. Hauser, Ludwig Kappos, Chris Polman, Philip L. De Jager, David A. Hafler, Mark J. Daly, Aarno Palotie, Janna Saarela, and Leena Peltonen
Am J Hum Genet. 2010 February 12; 86(2): 285–291. doi: 10.1016/j.ajhg.2010.01.017.
PMCID: PMC2820168
Letters to the Editor
No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation
Aimee S. Payne
Am J Hum Genet. 2010 February 12; 86(2): 292. doi: 10.1016/j.ajhg.2009.09.021.
PMCID: PMC2820169
Response to Payne
Wasim Ahmad
Am J Hum Genet. 2010 February 12; 86(2): 292. doi: 10.1016/j.ajhg.2010.01.015.
PMCID: PMC2820173
Announcement
Announcement
Am J Hum Genet. 2010 February 12; 86(2): 296. doi: 10.1016/j.ajhg.2010.01.024.
PMCID: PMC2820165
Errata
Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa
Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma Lopez, Emad B. Abboud, Ali A. Al-Rajhi, Molly Bray, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Robert K. Koenekoop, and Rui Chen
Am J Hum Genet. 2010 February 12; 86(2): 293. doi: 10.1016/j.ajhg.2010.01.002.
PMCID: PMC2820187
Corrects: Hui Wang, et al. Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa. Am J Hum Genet. 2009 March 13; 84(3): 380–387.
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, and Orly Elpeleg
Am J Hum Genet. 2010 February 12; 86(2): 294. doi: 10.1016/j.ajhg.2010.01.022.
PMCID: PMC2820189
Corrects: Simon Edvardson, et al. Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation. Am J Hum Genet. 2010 January 8; 86(1): 93–97.
Acute Infantile Liver Failure Due to Mutations in the TRMU Gene
Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, and Orly Elpeleg
Am J Hum Genet. 2010 February 12; 86(2): 295. doi: 10.1016/j.ajhg.2010.01.020.
PMCID: PMC2820182
Corrects: Avraham Zeharia, et al. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene. Am J Hum Genet. 2009 September 11; 85(3): 401–407.
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