Journal of Medical Genetics: 49 (4)

New loci

Original article:
An SNX10 mutation causes malignant osteopetrosis of infancy
(12 April, 2012) Free
Memet Aker, Alex Rouvinski, Saar Hashavia, Asaf Ta-Shma, Avraham Shaag, Shamir Zenvirt, Shoshana Israel, Michael Weintraub, Albert Taraboulos, Zvi Bar-Shavit, Orly Elpeleg
Original article:
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
(12 April, 2012)
Joyce El Hokayem, Céline Huber, Adeline Couvé, Jacqueline Aziza, Geneviève Baujat, Raymonde Bouvier, Denise P Cavalcanti, Felicity A Collins, Marie-Pierre Cordier, Anne-Lise Delezoide, Marie Gonzales, Diana Johnson, Martine Le Merrer, Annie Levy-Mozziconacci, Philippe Loget, Dominique Martin-Coignard, Jelena Martinovic, Geert R Mortier, Marie-José Perez, Joëlle Roume, Gioacchino Scarano, Arnold Munnich, Valérie Cormier-Daire
Original article: Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes (12 April, 2012)
Hanan E Shamseldin, Muneera Alshammari, Tarfa Al-Sheddi, Mustafa A Salih, Hisham Alkhalidi, Amal Kentab, Gabriela M Repetto, Mais Hashem, Fowzan S Alkuraya

Short report:
Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair
(12 April, 2012)
Jillian P Casey, Michael Nobbs, Paul McGettigan, SallyAnn Lynch, Sean Ennis
Communications:
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene
(12 April, 2012)
Ola Khalifa, Faiqa Imtiaz, Rabab Allam, Zuhair Al-Hassnan, Amal Al-Hemidan, Khalid Al-Mane, Gheid Abuharb, Ameera Balobaid, Nadia Sakati, James Hyland, Mohammed Al-Owain

Short report:
Keratinocytic epidermal nevi are associated with mosaic RAS mutations
(12 April, 2012)
Christian Hafner, Agusti Toll, Susanne Gantner, Andreas Mauerer, Irene Lurkin, Francesco Acquadro, Alejandro Fernández-Casado, Ellen C Zwarthoff, Wolfgang Dietmaier, Eulalia Baselga, Elisabet Parera, Asunción Vicente, Ariel Casanova, Juan Cigudosa, Thomas Mentzel, Ramon M Pujol, Michael Landthaler, Francisco X Real

Short report:
Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome
(12 April, 2012)
Tao Li, Han Zhao, Xiaoming Zhao, Bo Zhang, Linlin Cui, Yuhua Shi, Guangyu Li, Peng Wang, Zi-Jiang Chen
Original article:
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
(12 April, 2012)
Stéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, Danielle Seilhean, Elisa Teyssou, Marine Giraudeau, Carine Moigneu, Nadia Vandenberghe, Véronique Danel-Brunaud, Philippe Corcia, Pierre-François Pradat, Nadine Le Forestier, Lucette Lacomblez, Gaelle Bruneteau, William Camu, Alexis Brice, Cécile Cazeneuve, Eric LeGuern, Vincent Meininger, François Salachas

Original article: Life expectancy in hereditary cancer predisposing diseases: an observational study (23 February, 2012)
Anna Wilding, Sarah Louise Ingham, Fiona Lalloo, Tara Clancy, Susan M Huson, Anthony Moran, D Gareth Evans

Original article: Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele (12 April, 2012)
Uppala Radhakrishna, Swapan K Nath, Ken McElreavey, Uppala Ratnamala, Celi Sun, Amit K Maiti, Maryline Gagnebin, Frédérique Béna, Heather L Newkirk, Andrew J Sharp, David B Everman, Jeffrey C Murray, Charles E Schwartz, Stylianos E Antonarakis, Merlin G Butler

Original article: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing (12 April, 2012)
Tobias B Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A Mayr, Ulrike Herberg, Julia B Hennermann, Thomas Klopstock, Klaus A Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F Hoffmann, Marketa Tesarova, Hana Hansikova, Jiri Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch

Short report: The Human Variome Project Beijing meeting (12 April, 2012)
Timothy D Smith, Helen M Robinson, Richard G H Cotton