• Issue
    2011
    v, 573-703, E2134-E2258
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In This Issue
Free Access

Classical Investigation of Incomplete Collagen C-propeptide Processing Reveals a Distinctive High Bone Mass OI Phenotype

Ming Qi, 
  • Page: v
  • First Published: 25 May 2011
In This Issue
Free Access

Comparison of Programs for in silico Assessment of Missense Substitutions

Sean V. Tavtigian, 
  • Page: v
  • First Published: 25 May 2011

Rapid Communication
Full Access

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus†

Ranad Shaheen,  Eissa Faqeih,  Mohammed Z. Seidahmed,  Asma Sunker,  Faten Ezzat Alali,  AlQahtani Khadijah,  Fowzan S. Alkuraya, 
  • Pages: 573-578
  • First Published: 01 April 2011

Research Article
Full Access

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations†

Johannes Häberle,  Oleg A. Shchelochkov,  Jing Wang,  Panagiotis Katsonis,  Lynn Hall,  Sara Reiss,  Angela Eeds,  Alecia Willis,  Meeta Yadav,  Samantha Summar,  and the Urea Cycle Disorders Consortium, ,  Olivier Lichtarge,  Vicente Rubio,  Lee-Jun Wong,  Marshall Summar, 
  • Pages: 579-589
  • First Published: 30 November 2010
Research Article
Full Access

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations†

Sarah Ducamp,  Caroline Kannengiesser,  Mohamed Touati,  Loïc Garçon,  Agnès Guerci-Bresler,  Jean François Guichard,  Christiane Vermylen,  Joaquim Dochir,  Hélène A. Poirel,  Fanny Fouyssac,  Ludovic Mansuy,  Geneviève Leroux,  Gérard Tertian,  Robert Girot,  Hermann Heimpel,  Thomas Matthes,  Neila Talbi,  Jean-Charles Deybach,  Carole Beaumont,  Hervé Puy,  Bernard Grandchamp, 
  • Pages: 590-597
  • First Published: 01 February 2011

Research Article
Free Access

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

Katarina Lindahl,  Aileen M. Barnes,  Nadja Fratzl-Zelman,  Michael P. Whyte,  Theresa E. Hefferan,  Elena Makareeva,  Marina Brusel,  Michael J. Yaszemski,  Carl-Johan Rubin,  Andreas Kindmark,  Paul Roschger,  Klaus Klaushofer,  William H. McAlister,  Steven Mumm,  Sergey Leikin,  Efrat Kessler,  Adele L. Boskey,  Östen Ljunggren,  Joan C. Marini, 
  • Pages: 598-609
  • First Published: 22 February 2011
Research Article
Full Access

BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition†

Catherine Deveault,  Gail Billingsley,  Jacque L. Duncan,  Jenea Bin,  Rebecca Theal,  Ajoy Vincent,  Karen J. Fieggen,  Christina Gerth,  Nima Noordeh,  Elias I. Traboulsi,  Gerald A. Fishman,  David Chitayat,  Tanja Knueppel,  José M. Millán,  Francis L. Munier,  Debra Kennedy,  Samuel G. Jacobson,  A. Micheil Innes,  Grant A. Mitchell,  Kym Boycott,  Elise Héon, 
  • Pages: 610-619
  • First Published: 22 February 2011
Research Article
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Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes†

Dobril Ivanov,  Stephen E. Hamby,  Peter D. Stenson,  Andrew D. Phillips,  Hildegard Kehrer-Sawatzki,  David N. Cooper,  Nadia Chuzhanova, 
  • Pages: 620-632
  • First Published: 24 February 2011
Research Article
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Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity†

Jérémy Manry,  Guillaume Laval,  Etienne Patin,  Simona Fornarino,  Magali Tichit,  Christiane Bouchier,  Luis B. Barreiro,  Lluis Quintana-Murci, 
  • Pages: 633-642
  • First Published: 24 February 2011
Research Article
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Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family†

Meriem Ben-Ali,  Beatrice Corre,  Jérémy Manry,  Luis B. Barreiro,  Hélène Quach,  Michele Boniotto,  Sandra Pellegrini,  Lluís Quintana-Murci, 
  • Pages: 643-652
  • First Published: 24 February 2011
Research Article
Full Access

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction†

Susanne Thiele,  Luisa de Sanctis,  Ralf Werner,  Joachim Grötzinger,  Cumhur Aydin,  Harald Jüppner,  Murat Bastepe,  Olaf Hiort, 
  • Pages: 653-660
  • First Published: 24 February 2011
Research Article
Free Access

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed†

Stephanie Hicks,  David A. Wheeler,  Sharon E. Plon,  Marek Kimmel, 
  • Pages: 661-668
  • First Published: 24 February 2011
Research Article
Full Access

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14†

Byung-Ok Choi,  Sung Hee Kang,  Young Se Hyun,  Sumaria Kanwal,  Sun Wha Park,  Heasoo Koo,  Sang-Beom Kim,  Young-Chul Choi,  Jeong Hyun Yoo,  Jong-Won Kim,  Kee Duk Park,  Kyoung-Gyu Choi,  Song Ja Kim,  Stephan Züchner,  Ki Wha Chung, 
  • Pages: 669-677
  • First Published: 24 February 2011
Research Article
Free Access

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary†

Phillip J. Whiley,  Lucia Guidugli,  Logan C. Walker,  Sue Healey,  Bryony A. Thompson,  Sunil R. Lakhani,  Leonard M. Da Silva,  kConFab Investigators,  Sean V. Tavtigian,  David E. Goldgar,  Melissa A. Brown,  Fergus J. Couch,  Amanda B. Spurdle, 
  • Pages: 678-687
  • First Published: 10 March 2011

Methods
Full Access

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease†

Robert Dobrovolny,  Irina Nazarenko,  Jungmin Kim,  Dana Doheny,  Robert J. Desnick, 
  • Pages: 688-695
  • First Published: 08 February 2011

Letter to the Editors
Open Access

The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome†

JingHua Qiu,  Pierre Hutter,  Nils Rahner,  Simon Patton,  Sylviane Olschwang, 
  • Pages: 696-697
  • First Published: 08 March 2011

Meeting Report
Open Access

Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium

George P. Patrinos,  Federico Innocenti,  Nancy Cox,  Paolo Fortina, 
  • Pages: 698-703
  • First Published: 08 February 2011

Mutation in Brief
Free Access

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation†

Julia Vogt,  Jürgen Kohlhase,  Susanne Morlot,  Lan Kluwe,  Victor-Felix Mautner,  David N. Cooper,  Hildegard Kehrer-Sawatzki, 
  • Pages: E2134-E2147
  • First Published: 24 February 2011
Mutation in Brief
Free Access

Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma†

Xiaomu Wei,  Angela Moncada-Pazos,  Santiago Cal,  Clara Soria-Valles,  Jared Gartner,  Udo Rudloff,  Jimmy C. Lin,  NISC Comparative Sequencing Program ,  Steven A. Rosenberg,  Carlos López-Otín,  Yardena Samuels, 
  • Pages: E2148-E2175
  • First Published: 24 February 2011
Mutation in Brief
Free Access

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer†

Heide Hellebrand,  Christian Sutter,  Ellen Honisch,  Eva Gross,  Barbara Wappenschmidt,  Christian Schem,  Helmut Deißler,  Nina Ditsch,  Verena Gress,  Marion Kiechle,  Claus R. Bartram,  Rita K. Schmutzler,  Dieter Niederacher,  Norbert Arnold,  Alfons Meindl, 
  • Pages: E2176-E2188
  • First Published: 24 February 2011
Mutation in Brief
Free Access

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles†

Francesca Bertola,  Mirella Filocamo,  Giorgio Casati,  Matthew Mort,  Camillo Rosano,  Anna Tylki-Szymanska,  Beyhan Tüysüz,  Orazio Gabrielli,  Serena Grossi,  Maurizio Scarpa,  Giancarlo Parenti,  Daniela Antuzzi,  Jaime Dalmau,  Maja Di Rocco,  Carlo Dionisi Vici,  Ilyas Okur,  Jordi Rosell,  Attilio Rovelli,  Francesca Furlan,  Miriam Rigoldi,  Andrea Biondi,  David N Cooper,  Rossella Parini, 
  • Pages: E2189-E2210
  • First Published: 10 March 2011
Mutation in Brief
Free Access

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I†

Annelies Rotthier,  Anke Penno,  Bernd Rautenstrauss,  Michaela Auer-Grumbach,  Georg M. Stettner,  Bob Asselbergh,  Kim Van Hoof,  Heinrich Sticht,  Nicolas Lévy,  Vincent Timmerman,  Thorsten Hornemann,  Katrien Janssens, 
  • Pages: E2211-E2225
  • First Published: 24 February 2011
Mutation in Brief
Free Access

miRvar: A comprehensive database for genomic variations in microRNAs†

Deeksha Bhartiya,  Saurabh V. Laddha,  Arijit Mukhopadhyay,  Vinod Scaria, 
  • Pages: E2226-E2245
  • First Published: 24 February 2011
Mutation in Brief
Free Access

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa†

Paola Benaglio,  Terri L. McGee,  Leonardo P. Capelli,  Shyana Harper,  Eliot L. Berson,  Carlo Rivolta, 
  • Pages: E2246-E2258
  • First Published: 24 February 2011