Human Mutation

Cover image for Vol. 34 Issue 1

January 2013

Volume 34, Issue 1

Pages vii–vii, 1–274

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Erratum
    1. You have free access to this content
    2. You have free access to this content
    3. You have free access to this content
  2. Reviews

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Erratum
    1. You have free access to this content
      The Facial Evolution: Looking Backward and Moving Forward (pages 14–22)

      Gareth Baynam, Mark Walters, Peter Claes, Stefanie Kung, Peter LeSouef, Hugh Dawkins, David Gillett and Jack Goldblatt

      Article first published online: 2 NOV 2012 | DOI: 10.1002/humu.22219

  3. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Erratum
    1. FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update (pages 23–31)

      Kristiana Gordon, Sarah L. Spiden, Fiona C. Connell, Glen Brice, Sally Cottrell, John Short, Rohan Taylor, Steve Jeffery, Peter S. Mortimer, Sahar Mansour and Pia Ostergaard

      Article first published online: 16 OCT 2012 | DOI: 10.1002/humu.22223

  4. Databases

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Erratum
    1. General Olfactory Sensitivity Database (GOSdb): Candidate Genes and their Genomic Variations (pages 32–41)

      Ifat Keydar, Edna Ben-Asher, Ester Feldmesser, Noam Nativ, Arisa Oshimoto, Diego Restrepo, Hiroaki Matsunami, Ming-Shan Chien, Jayant M. Pinto, Yoav Gilad, Tsviya Olender and Doron Lancet

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22212

  5. Informatics

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Erratum
    1. Autozygosity Mapping with Exome Sequence Data (pages 50–56)

      Ian M. Carr, Sanjeev Bhaskar, James O’ Sullivan, Mohammed A. Aldahmesh, Hanan E. Shamseldin, Alexander F. Markham, David T. Bonthron, Graeme Black and Fowzan S. Alkuraya

      Article first published online: 22 OCT 2012 | DOI: 10.1002/humu.22220

    2. You have full text access to this OnlineOpen article
      Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models (pages 57–65)

      Hashem A. Shihab, Julian Gough, David N. Cooper, Peter D. Stenson, Gary L. A. Barker, Keith J. Edwards, Ian N. M. Day and Tom R. Gaunt

      Article first published online: 2 NOV 2012 | DOI: 10.1002/humu.22225

  6. Brief Reports

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Erratum
    1. A Novel Deletion in SMPX Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect (pages 66–69)

      Nelly Abdelfatah, Nancy Merner, Jim Houston, Tammy Benteau, Anne Griffin, Lance Doucette, Tracy Stockley, Julie L. Lauzon and Terry-Lynn Young

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22205

    2. Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases (pages 70–73)

      Janine L. Bakker, Saskia E. van Mil, Gerry Crossan, Nelly Sabbaghian, Kim De Leeneer, Bruce Poppe, Muriel Adank, Hans Gille, Henk Verheul, Hanne Meijers-Heijboer, Johan P. de Winter, Kathleen Claes, Marc Tischkowitz and Quinten Waisfisz

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22206

    3. Genetic Variant on PDGFRL Associated with Behçet Disease in Chinese Han Populations (pages 74–78)

      Shengping Hou, Xiang Xiao, Yan Zhou, Xiao Zhu, Fuzhen Li, Aize Kijlstra and Peizeng Yang

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22208

    4. Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide (pages 79–82)

      Alberto García-Redondo, Oriol Dols-Icardo, Ricard Rojas-García, Jesús Esteban-Pérez, Pilar Cordero-Vázquez, José Luis Muñoz-Blanco, Irene Catalina, Miguel González-Muñoz, Luis Varona, Esther Sarasola, Monica Povedano, Teresa Sevilla, Antonio Guerrero, Julio Pardo, Adolfo López de Munain, Celedonio Márquez-Infante, Francisco Javier Rodríguez de Rivera, Pau Pastor, Ivonne Jericó, Amaya Álvarez de Arcaya, Jesús S. Mora, Jordi Clarimón, The C9ORF72 Spanish Study Group, Juan Francisco Gonzalo-Martínez, Alexandra Juárez-Rufián, Gabriela Atencia, Rosario Jiménez-Bautista, Yolanda Morán, Javier Mascías, María Hernández-Barral, Solange Kapetanovic, María García-Barcina, Carmen Alcalá, Álvaro Vela, Concepción Ramírez-Ramos, Lucía Galán, Jordi Pérez-Tur, Beatriz Quintáns, M Jesús Sobrido, Roberto Fernández-Torrón, Juan José Poza, Ana Gorostidi, Carmen Paradas, Pablo Villoslada, Pilar Larrodé, José Luis Capablo, Jordi Pascual-Calvet, Miguel Goñi, Yolanda Morgado, Miriam Guitart, Sira Moreno-Laguna, Almudena Rueda, Carlos Martín-Estefanía, Carlos Cemillán, Rafael Blesa and Alberto Lleó

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22211

    5. Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation (pages 83–87)

      Marie Marduel, Khadija Ouguerram, Valérie Serre, Dominique Bonnefont-Rousselot, Alice Marques-Pinheiro, Knut Erik Berge, Martine Devillers, Gérald Luc, Jean-Michel Lecerf, Laurent Tosolini, Danièle Erlich, Gina M. Peloso, Nathan Stitziel, Patrick Nitchké, Jean-Philippe Jaïs, The French Research Network on ADH, Marianne Abifadel, Sekar Kathiresan, Trond Paul Leren, Jean-Pierre Rabès, Catherine Boileau and Mathilde Varret

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22215

    6. Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP (pages 88–92)

      Carine Le Goff, Clémentine Mahaut, Armand Bottani, Berenice Doray, Alice Goldenberg, Anne Moncla, Sylvie Odent, Patrick Nitschke, Arnold Munnich, Laurence Faivre and Valérie Cormier-Daire

      Article first published online: 16 OCT 2012 | DOI: 10.1002/humu.22216

    7. Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia Gene SLX4/FANCP (pages 93–96)

      Beatrice Schuster, Kerstin Knies, Chantal Stoepker, Eunike Velleuer, Richard Friedl, Birgit Gottwald-Mühlhauser, Johan P. de Winter and Detlev Schindler

      Article first published online: 16 OCT 2012 | DOI: 10.1002/humu.22221

    8. Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis (pages 97–102)

      Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, Francois P. Bernier, FORGE Canada Consortium, Jillian S. Parboosingh and A. Micheil Innes

      Article first published online: 9 NOV 2012 | DOI: 10.1002/humu.22222

      Corrected by:

      Erratum: Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

      Vol. 34, Issue 4, 667, Article first published online: 11 FEB 2013

    9. Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome (pages 103–107)

      José-Mario Capo-Chichi, Sanjay Kumar Bharti, Joshua A. Sommers, Tony Yammine, Eliane Chouery, Lysanne Patry, Guy A. Rouleau, Mark E. Samuels, Fadi F. Hamdan, Jacques L. Michaud, Robert M. Brosh Jr, André Mégarbane and Zoha Kibar

      Article first published online: 17 OCT 2012 | DOI: 10.1002/humu.22226

    10. KDM6A Point Mutations Cause Kabuki Syndrome (pages 108–110)

      Noriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, Hirofumi Ohashi, Masaaki Shiina, Kazuhiro Ogata, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Norio Niikawa and Naomichi Matsumoto

      Article first published online: 17 OCT 2012 | DOI: 10.1002/humu.22229

  7. Research Articles

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Erratum
    1. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa (pages 111–121)

      Bert Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, Meghan Mac Neal, Elaine C. Davis, Joseph G.H. Lee, Aicha Salhi, Sheila Unger, Ketil Heimdal, Salome De Almeida, Uwe Kornak, Harald Gaspar, Jean-Luc Bresson, Katrina Prescott, Maria E. Gosendi, Sahar Mansour, Gérald E. Piérard, Suneeta Madan-Khetarpal, Frank C. Sciurba, Sofie Symoens, Paul J Coucke, Lionel Van Maldergem, Zsolt Urban and Anne De Paepe

      Article first published online: 13 AUG 2012 | DOI: 10.1002/humu.22165

    2. Naturally Occurring Genetic Variants of Human Caspase-1 Differ Considerably in Structure and the Ability to Activate Interleukin-1β (pages 122–131)

      Hella Luksch, Michael J. Romanowski, Osvaldo Chara, Victoria Tüngler, Ernesto R. Caffarena, Michael C. Heymann, Peter Lohse, Ivona Aksentijevich, Elaine F. Remmers, Silvana Flecks, Nadine Quoos, Johannes Gramatté, Cathleen Petzold, Sigrun R. Hofmann, Stefan Winkler, Frank Pessler, Tilmann Kallinich, Gerd Ganser, Antje Nimtz-Talaska, Ulrich Baumann, Volker Runde, Bodo Grimbacher, Jennifer Birmelin, Manfred Gahr, Joachim Roesler and Angela Rösen-Wolff

      Article first published online: 10 AUG 2012 | DOI: 10.1002/humu.22169

    3. Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease (pages 132–142)

      Brandy D. Hyndman, Taranjit S. Gujral, Jonathan R. Krieger, Jessica G. Cockburn and Lois M. Mulligan

      Article first published online: 23 AUG 2012 | DOI: 10.1002/humu.22170

    4. Joint Analysis of SNPs and Proteins Identifies Regulatory IL18 Gene Variations Decreasing the Chance of Spastic Cerebral Palsy (pages 143–148)

      Mads Vilhelm Hollegaard, Kristin Skogstrand, Poul Thorsen, Bent Nørgaard-Pedersen, David Michael Hougaard and Jakob Grove

      Article first published online: 4 SEP 2012 | DOI: 10.1002/humu.22173

    5. Investigation of the Relationship Between Prostate Cancer and MSMB and NCOA4 Genetic Variants and Protein Expression (pages 149–156)

      Liesel M. FitzGerald, Xiaotun Zhang, Suzanne Kolb, Erika M. Kwon, Ying Ching Liew, Antonio Hurtado-Coll, Beatrice S. Knudsen, Elaine A. Ostrander and Janet L. Stanford

      Article first published online: 4 OCT 2012 | DOI: 10.1002/humu.22176

    6. Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles (pages 157–166)

      Rachel Adihe Lokanga, Ali Entezam, Daman Kumari, Dmitry Yudkin, Mei Qin, Carolyn Beebe Smith and Karen Usdin

      Article first published online: 4 OCT 2012 | DOI: 10.1002/humu.22177

    7. Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex (pages 167–175)

      Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, Nathalie Lannoy, Frances Elmslie, Martina Bebin, Kira Dies, Catherine Thompson, Steven P. Sparagana, Peter Davies, Ans van den Ouweland, Dicky Halley and Mark Nellist

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22202

      Corrected by:

      Errata: Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

      Vol. 34, Issue 2, 409–410, Article first published online: 7 JAN 2013

    8. Mutation Analysis of the IL36RN Gene in 14 Japanese Patients with Generalized Pustular Psoriasis (pages 176–183)

      Muhammad Farooq, Hiroyuki Nakai, Atsushi Fujimoto, Hiroki Fujikawa, Asako Matsuyama, Naoyuki Kariya, Atsuko Aizawa, Hiroshi Fujiwara, Masaaki Ito and Yutaka Shimomura

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22203

    9. JP-45/JSRP1 Variants Affect Skeletal Muscle Excitation–Contraction Coupling by Decreasing the Sensitivity of the Dihydropyridine Receptor (pages 184–190)

      Toshimichi Yasuda, Osvaldo Delbono, Zhong-Min Wang, Maria L. Messi, Thierry Girard, Albert Urwyler, Susan Treves and Francesco Zorzato

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22209

    10. A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo (pages 191–199)

      Aimée Vester, Gisselle Velez-Ruiz, Heather M. McLaughlin, NISC Comparative Sequencing Program, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Ricardo H. Roda, Kenneth H. Fischbeck, Leslie G. Biesecker, Garth Nicholson, Asim A. Beg and Anthony Antonellis

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22210

    11. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry (pages 200–209)

      Bryony A. Thompson, David E. Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T. Parsons, Walsh Michael D., Steven Gallinger, Robert W. Haile, John L. Hopper, Mark A. Jenkins, Loic LeMarchand, Noralane M. Lindor, Polly A. Newcomb, Stephen N. Thibodeau, Colon Cancer Family Registry, Joanne P. Young, Daniel D. Buchanan, Sean V. Tavtigian and Amanda B. Spurdle

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22213

    12. Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis (pages 210–220)

      Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga-Jauregui, Claudia M.B. Carvalho, James R. Lupski, Paweł Stankiewicz and Anna Gambin

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22217

    13. Molecular Analysis of the Rare In(Lu) Blood Type: Toward Decoding the Phenotypic Outcome of Haploinsufficiency for the Transcription Factor KLF1 (pages 221–228)

      Virginie Helias, Carole Saison, Thierry Peyrard, Eliane Vera, Claude Prehu, Jean-Pierre Cartron and Lionel Arnaud

      Article first published online: 2 NOV 2012 | DOI: 10.1002/humu.22218

    14. Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina (pages 229–236)

      Mara Doimo, Maria Andrea Desbats, Maria Cristina Baldoin, Elisabetta Lenzini, Giuseppe Basso, Elaine Murphy, Claudio Graziano, Marco Seri, Alberto Burlina, Geppo Sartori, Eva Trevisson and Leonardo Salviati

      Article first published online: 17 OCT 2012 | DOI: 10.1002/humu.22233

    15. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability (pages 237–247)

      Izak J. Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Katrina E. Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns and Deborah J. Morris-Rosendahl

      Article first published online: 17 OCT 2012 | DOI: 10.1002/humu.22224

  8. Methods

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Erratum
    1. Mutation Detection by Clonal Sequencing of PCR Amplicons and Grouped Read Typing is Applicable to Clinical Diagnostics (pages 248–254)

      Philip A. Chambers, Lucy F. Stead, Joanne E. Morgan, Ian M. Carr, Kate M. Sutton, Christopher M. Watson, Victoria Crowe, Helen Dickinson, Paul Roberts, Clive Mulatero, Matthew Seymour, Alexander F. Markham, Paul M. Waring, Philip Quirke and Graham R. Taylor

      Article first published online: 11 OCT 2012 | DOI: 10.1002/humu.22207

    2. Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions (pages 255–265)

      Bryony A. Thompson, Marc S. Greenblatt, Maxime P. Vallee, Johanna C. Herkert, Chloe Tessereau, Erin L. Young, Ivan A. Adzhubey, Biao Li, Russell Bell, Bingjian Feng, Sean D. Mooney, Predrag Radivojac, Shamil R. Sunyaev, Thierry Frebourg, Robert M.W. Hofstra, Rolf H. Sijmons, Ken Boucher, Alun Thomas, David E. Goldgar, Amanda B. Spurdle and Sean V. Tavtigian

      Article first published online: 22 OCT 2012 | DOI: 10.1002/humu.22214

    3. High-Specificity Single-Tube Multiplex Genotyping Using Ribo-PAP PCR, Tag Primers, Alkali Cleavage of RNA/DNA Chimeras and MALDI-TOF MS (pages 266–273)

      Florence Mauger, David H. Gelfand, Amar Gupta, Veeraiah Bodepudi, Stephen G. Will, Keith Bauer, Thomas W. Myers and Ivo G. Gut

      Article first published online: 8 NOV 2012 | DOI: 10.1002/humu.22227

  9. Erratum

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Erratum
    1. You have free access to this content
      Comprehensive Functional Assessment of MLH1 Variants of Unknown Significance (page 274)

      Ester Borràs, Marta Pineda, Angela Brieger, Inga Hinrichsen, Carolina Gómez, Matilde Navarro, Judit Balmaña, Teresa Ramón y Cajal, Asunción Torres, Joan Brunet, Ignacio Blanco, Guido Plotz, Conxi Lázaro and Gabriel Capellá

      Article first published online: 27 NOV 2012 | DOI: 10.1002/humu.22246

      This article corrects:

      Comprehensive functional assessment of MLH1 variants of unknown significance1

      Vol. 33, Issue 11, 1576–1588, Article first published online: 12 JUL 2012

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