European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 6

TABLE OF CONTENTS Volume 20, Issue 6 (June 2012) In this issue Letters Articles Short Reports Clinical Utility Gene Cards Corrigendum Also new AOP Advertisement Accelerate Next Generation Sequencing Research The Next Generation Sequencing (NGS) Collection for Pipeline Pilot offers a uniquely agile and scalable platform for automated NGS Data analysis. The NGS Collection let users analyze and interpret the massive datasets generated by all current DNA sequencing instruments, and is designed for use with Oxford Nanopore when launched. Check out the unparalleled power and flexibility of the NGS Collection. Download case study Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Free for everyone: Practical Genetics series A one-stop information resource for genetics clinicians. Concise and focused reviews on individual genetic disorders, the latest diagnostic criteria and management guidelines, by leading authorities in the field. All in an easy-to-use format. Read the series for FREE.   Letters Top Questionable pathogenicity of FOXG1 duplication David J Amor, Trent Burgess, Tiong Y Tan and Mark D Pertile Eur J Hum Genet 2012 20: 595-596; advance online publication, January 18, 2012; 10.1038/ejhg.2011.267 Full Text Reply to Amor et al Nicola Brunetti-Pierri, Sau Wai Cheung and Pawe Stankiewicz Eur J Hum Genet 2012 20: 597; advance online publication, January 18, 2012; 10.1038/ejhg.2011.270 Full Text Articles Top Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis Sonja A de Munnik, Louise S Bicknell, Salim Aftimos, Jumana Y Al-Aama, Yolande van Bever, Michael B Bober, Jill Clayton-Smith, Alaa Y Edrees, Murray Feingold, Alan Fryer, Johanna M van Hagen, Raoul C Hennekam, Maaike C E Jansweijer, Diana Johnson, Sarina G Kant, John M Opitz, A Radha Ramadevi, Willie Reardon, Alison Ross, Pierre Sarda, Constance T R M Schrander-Stumpel, Jeroen Schoots, I Karen Temple, Paulien A Terhal, Annick Toutain, Carol A Wise, Michael Wright, David L Skidmore, Mark E Samuels, Lies H Hoefsloot, Nine V A M Knoers, Han G Brunner, Andrew P Jackson and Ernie M H F Bongers Eur J Hum Genet 2012 20: 598-606; advance online publication, February 15, 2012; 10.1038/ejhg.2011.269 Abstract | Full Text The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees Hong Chen, Jing Zheng, Ling Xue, Yanzi Meng, Yan Wang, Bingjiao Zheng, Fang Fang, Suxue Shi, Qiaomeng Qiu, Pingping Jiang, Zhongqiu Lu, Jun Qin Mo, Jianxin Lu and Min-Xin Guan Eur J Hum Genet 2012 20: 607-612; advance online publication, February 8, 2012; 10.1038/ejhg.2011.259 Abstract | Full Text A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease Anne Rovelet-Lecrux, Solenn Legallic, David Wallon, Jean-Michel Flaman, Olivier Martinaud, Stéphanie Bombois, Adeline Rollin-Sillaire, Agnès Michon, Isabelle Le Ber, Jérémie Pariente, Michèle Puel, Claire Paquet, Bernard Croisile, Catherine Thomas-Antérion, Martine Vercelletto, Richard Lévy, Thierry Frébourg, Didier Hannequin and Dominique Campion Investigators of the GMAJ project Eur J Hum Genet 2012 20: 613-617; advance online publication, December 14, 2011; 10.1038/ejhg.2011.225 Abstract | Full Text Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome D Babovic-Vuksanovic, Ludwine Messiaen, Christoph Nagel, Hilde Brems, Bernd Scheithauer, Ellen Denayer, Rong Mao, Raf Sciot, Karen M Janowski, Martin U Schuhmann, Kathleen Claes, Eline Beert, James A Garrity, Robert J Spinner, Anat Stemmer-Rachamimov, Ralitza Gavrilova, Frank Van Calenbergh, Victor Mautner and Eric Legius Eur J Hum Genet 2012 20: 618-625; advance online publication, January 18, 2012; 10.1038/ejhg.2011.275 Abstract | Full Text Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta Roxana Moslehi, Anil Kumar, James L Mills, Xavier Ambroggio, Caroline Signore and Amiran Dzutsev Eur J Hum Genet 2012 20: 626-631; advance online publication, January 11, 2012; 10.1038/ejhg.2011.249 Abstract | Full Text Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process Abraham Kuot, Alex W Hewitt, Kim Griggs, Sonja Klebe, Richard Mills, Vishal Jhanji, Jamie E Craig, Shiwani Sharma and Kathryn P Burdon Eur J Hum Genet 2012 20: 632-638; advance online publication, January 11, 2012; 10.1038/ejhg.2011.248 Abstract | Full Text A large duplication involving the IHH locus mimics acrocallosal syndrome Memnune Yuksel-Apak, Nina Bögershausen, Barbara Pawlik, Yun Li, Selcuk Apak, Oya Uyguner, Esther Milz, Gudrun Nürnberg, Birsen Karaman, Ayan Gülgören, Karl-Heinz Grzeschik, Peter Nürnberg, Hülya Kayserili and Bernd Wollnik Eur J Hum Genet 2012 20: 639-644; advance online publication, January 11, 2012; 10.1038/ejhg.2011.250 Abstract | Full Text KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations Stephan Klebe, Alexander Lossos, Hamid Azzedine, Emeline Mundwiller, Ruth Sheffer, Marion Gaussen, Cecilia Marelli, Magdalena Nawara, Wassila Carpentier, Vincent Meyer, Agnès Rastetter, Elodie Martin, Delphine Bouteiller, Laurent Orlando, Gabor Gyapay, Khalid H El-Hachimi, Batel Zimmerman, Moriya Gamliel, Adel Misk, Israela Lerer, Alexis Brice, Alexandra Durr and Giovanni Stevanin Eur J Hum Genet 2012 20: 645-649; advance online publication, January 18, 2012; 10.1038/ejhg.2011.261 Abstract | Full Text Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease Elizna M van der Walt, Izelle Smuts, Robert W Taylor, Joanna L Elson, Douglass M Turnbull, Roan Louw and Francois H van der Westhuizen Eur J Hum Genet 2012 20: 650-656; advance online publication, January 18, 2012; 10.1038/ejhg.2011.262 Abstract | Full Text Consanguinity in Centre d’Étude du Polymorphisme Humain (CEPH) pedigrees Eric L Stevens, Greg Heckenberg, Joseph D Baugher, Elisha DO Roberson, Thomas J Downey and Jonathan Pevsner Eur J Hum Genet 2012 20: 657-667; advance online publication, January 25, 2012; 10.1038/ejhg.2011.266 Abstract | Full Text Impact of diagnostic misclassification on estimation of genetic correlations using genome-wide genotypes Naomi R Wray, Sang Hong Lee and Kenneth S Kendler Eur J Hum Genet 2012 20: 668-674; advance online publication, January 18, 2012; 10.1038/ejhg.2011.257 Abstract | Full Text Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures Niklas R Jørgensen, Lise B Husted, Kristen K Skarratt, Leanne Stokes, Charlotte L Tofteng, Torben Kvist, Jens-Erik B Jensen, Pia Eiken, Kim Brixen, Stephen Fuller, Rory Clifton-Bligh, Alison Gartland, Peter Schwarz, Bente L Langdahl and James S Wiley Eur J Hum Genet 2012 20: 675-681; advance online publication, January 25, 2012; 10.1038/ejhg.2011.253 Abstract | Full Text A two-stage association study identifies methyl-CpG-binding domain protein 2 gene polymorphisms as candidates for breast cancer susceptibility Yadav Sapkota, Paula Robson, Raymond Lai, Carol E Cass, John R Mackey and Sambasivarao Damaraju Eur J Hum Genet 2012 20: 682-689; advance online publication, January 18, 2012; 10.1038/ejhg.2011.273 Abstract | Full Text A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection Vincent Pedergnana, Antoine Gessain, Patricia Tortevoye, Minji Byun, Delphine Bacq-Daian, Anne Boland, Jean-Laurent Casanova, Laurent Abel and Sabine Plancoulaine Eur J Hum Genet 2012 20: 690-695; advance online publication, January 18, 2012; 10.1038/ejhg.2011.260 Abstract | Full Text Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time Erwin Reiling, Valeriya Lyssenko, Jolanda MA Boer, Sandra Imholz, W Monique M Verschuren, Bo Isomaa, Tiinamaija Tuomi, Leif Groop and Martijn E T Dollé Eur J Hum Genet 2012 20: 696-700; advance online publication, December 21, 2011; 10.1038/ejhg.2011.240 Abstract | Full Text Short Reports Top Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype Nasim Vasli, Vincent Laugel, Johann Böhm, Béatrice Lannes, Valérie Biancalana and Jocelyn Laporte Eur J Hum Genet 2012 20: 701-704; advance online publication, January 18, 2012; 10.1038/ejhg.2011.256 Abstract | Full Text Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly Eva Klopocki, Christian Kähler, Nicola Foulds, Hitesh Shah, Benjamin Joseph, Hermann Vogel, Sabine Lüttgen, Rainer Bald, Regina Besoke, Karsten Held, Stefan Mundlos and Ingo Kurth Eur J Hum Genet 2012 20: 705-708; advance online publication, January 18, 2012; 10.1038/ejhg.2011.264 Abstract | Full Text An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity Jennifer Asimit, Aaron Day-Williams, Lina Zgaga, Igor Rudan, Vesna Boraska and Eleftheria Zeggini Eur J Hum Genet 2012 20: 709-712; advance online publication, February 1, 2012; 10.1038/ejhg.2011.274 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: proximal spinal muscular atrophy Sabine Rudnik–Schöneborn, Thomas Eggermann, Wolfram Kress, Henny H Lemmink, Jan-Maarten Cobben and Klaus Zerres Eur J Hum Genet 2012 20: ; advance online publication, April 18, 2012; 10.1038/ejhg.2012.62 Full Text Clinical utility gene card for: Nemaline myopathy Kristen J Nowak, Mark R Davis, Carina Wallgren-Pettersson, Phillipa J Lamont and Nigel G Laing Eur J Hum Genet 2012 20: ; advance online publication, April 18, 2012; 10.1038/ejhg.2012.70 Full Text Clinical utility gene card for: Alport syndrome Jens Michael Hertz, Mads Thomassen, Helen Storey and Frances Flinter Eur J Hum Genet 2012 20: ; advance online publication, December 14, 2011; 10.1038/ejhg.2011.237 Full Text Corrigendum Top Imaging genetics of FOXP2 in dyslexia Arndt Wilcke, Carolin Ligges Jana Burkhardt, Michael Alexander, Christiane Wolf, Elfi Quente, Peter Ahnert, Per Hoffmann, Albert Becker, Bertram Müller-Myhsok, Sven Cichon, Johannes Boltze and Holger Kirsten Eur J Hum Genet 2012 20: 714; 10.1038/ejhg.2012.31 Full Text Advertisement Free for everyone: Clinical Utility Gene Cards Bringing together information regarding a specific disease and providing clinicians with guidance on genetic testing for hereditary conditions in real settings of clinical genetic services. 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