Human Mutation

Cover image for Human Mutation

February 2009

Volume 30, Issue 2

Pages v–v, 135–274, E310–E459

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Errata
    10. Mutations in Brief
    1. You have free access to this content
      Understanding CNVs and disease: Simply not so simple (page v)

      Mark H. Paalman

      Article first published online: 28 JAN 2009 | DOI: 10.1002/humu.20983

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      Lynch syndrome deletions in unexpected places (page v)

      Albert de la Chapelle

      Article first published online: 28 JAN 2009 | DOI: 10.1002/humu.20984

  2. Review Articles

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Errata
    10. Mutations in Brief
  3. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Errata
    10. Mutations in Brief
    1. You have free access to this content
      FOXL2 mutations and genomic rearrangements in BPES (pages 158–169)

      Diane Beysen, Anne De Paepe and Elfride De Baere

      Article first published online: 22 AUG 2008 | DOI: 10.1002/humu.20807

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      Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism (pages 170–180)

      Sarah E. Flanagan, Séverine Clauin, Christine Bellanné-Chantelot, Pascale de Lonlay, Lorna W. Harries, Anna L. Gloyn and Sian Ellard

      Article first published online: 2 SEP 2008 | DOI: 10.1002/humu.20838

  4. Databases

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Errata
    10. Mutations in Brief
    1. You have free access to this content
      The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations (pages 181–190)

      Melissa Yana Frédéric, Christine Monino, Christoph Marschall, Dalil Hamroun, Laurence Faivre, Guillaume Jondeau, Hanns-Georg Klein, Luitgard Neumann, Elodie Gautier, Christine Binquet, Cheryl Maslen, Maurice Godfrey, Prateek Gupta, Dianna Milewicz, Catherine Boileau, Mireille Claustres, Christophe Béroud and Gwenaëlle Collod-Béroud

      Article first published online: 2 SEP 2008 | DOI: 10.1002/humu.20794

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      Exaggerated status of “novel” and “pathogenic” mtDNA sequence variants due to inadequate database searches (pages 191–196)

      Hans-Jürgen Bandelt, Antonio Salas, Robert W. Taylor and Yong-Gang Yao

      Article first published online: 17 SEP 2008 | DOI: 10.1002/humu.20846

  5. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Errata
    10. Mutations in Brief
    1. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome (pages 197–203)

      Marietta E. Kovacs, Janos Papp, Zoltan Szentirmay, Szabolcs Otto and Edith Olah

      Article first published online: 28 JAN 2009 | DOI: 10.1002/humu.20942

  6. Research Articles

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Errata
    10. Mutations in Brief
    1. Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily (pages 204–211)

      Elena G. Bochukova, Tony Roscioli, Dale J. Hedges, Indira B. Taylor, David Johnson, David J. David, Prescott L. Deininger and Andrew O.M. Wilkie

      Article first published online: 22 AUG 2008 | DOI: 10.1002/humu.20825

    2. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects (pages 212–220)

      Karen E. Christensen, Charles V. Rohlicek, Gregor U. Andelfinger, Jacques Michaud, Jean-Luc Bigras, Andrea Richter, Robert E. MacKenzie and Rima Rozen

      Article first published online: 2 SEP 2008 | DOI: 10.1002/humu.20830

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      Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease (pages 228–238)

      Balaji S. Srinivasan, Jaleh Doostzadeh, Farnaz Absalan, Sharareh Mohandessi, Roxana Jalili, Saharnaz Bigdeli, Justin Wang, Jaydev Mahadevan, Caroline L.G. Lee, Ronald W. Davis, J. William Langston and Mostafa Ronaghi

      Article first published online: 13 OCT 2008 | DOI: 10.1002/humu.20840

    4. A gene conversion hotspot in the human growth hormone (GH1) gene promoter (pages 239–247)

      Andreas Wolf, David S. Millar, Amke Caliebe, Martin Horan, Vicky Newsway, Dorothea Kumpf, Katharina Steinmann, Ik-Seung Chee, Young-Ho Lee, Apiwat Mutirangura, Guglielmina Pepe, Olga Rickards, Jörg Schmidtke, Werner Schempp, Nadia Chuzhanova, Hildegard Kehrer-Sawatzki, Michael Krawczak and David N. Cooper

      Article first published online: 17 SEP 2008 | DOI: 10.1002/humu.20850

    5. Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion (pages 248–254)

      Jan-Willem Taanman, Shamima Rahman, Alistair T. Pagnamenta, Andrew A.M. Morris, Maria Bitner-Glindzicz, Nicole I. Wolf, James V. Leonard, Peter T. Clayton and Anthony H.V. Schapira

      Article first published online: 30 SEP 2008 | DOI: 10.1002/humu.20852

    6. Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA (pages 255–263)

      Gaby Tanner, Esther Glaus, Daniel Barthelmes, Marius Ader, Johannes Fleischhauer, Franco Pagani, Wolfgang Berger and John Neidhardt

      Article first published online: 3 OCT 2008 | DOI: 10.1002/humu.20861

  7. Methods

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Errata
    10. Mutations in Brief
    1. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (pages 264–273)

      Ying-Cai Tan, Jon D. Blumenfeld, Raluca Anghel, Stephanie Donahue, Rimma Belenkaya, Marina Balina, Thomas Parker, Daniel Levine, Debra G.B. Leonard and Hanna Rennert

      Article first published online: 3 OCT 2008 | DOI: 10.1002/humu.20842

  8. Errata

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Errata
    10. Mutations in Brief
    1. You have free access to this content
      Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA (page 274)

      Gaby Tanner, Esther Glaus, Daniel Barthelmes, Marius Ader, Johannes Fleischhauer, Franco Pagani, Wolfgang Berger and John Neidhardt

      Article first published online: 28 JAN 2009 | DOI: 10.1002/humu.20943

  9. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Errata
    10. Mutations in Brief
    1. You have free access to this content
      Transcriptional behavior of DMD gene duplications in DMD/BMD males (pages E310–E319)

      F. Gualandi, M. Neri, M. Bovolenta, E. Martoni, P. Rimessi, S. Fini, P. Spitali, M. Fabris, M. Pane, C. Angelini, M. Mora, L. Morandi, T. Mongini, E. Bertini, E. Ricci, G. Vattemi, E. Mercuri, L. Merlini and A. Ferlini

      Article first published online: 13 OCT 2008 | DOI: 10.1002/humu.20881

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      Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing (pages E320–E329)

      Christel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, Bernard Aral, Nadège Gigot, Anne Donzel, Lionel Van Maldergem, Eric Bieth, Valérie Layet, Michèle Mathieu, Ahmad Teebi, James Lespinasse, Patrick Callier, Francine Mugneret, Alice Masurel-Paulet, Elodie Gautier, Frédéric Huet, Jean-Raymond Teyssier, Mario Tosi, Thierry Frébourg and Laurence Faivre

      Article first published online: 19 NOV 2008 | DOI: 10.1002/humu.20888

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      Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome (pages E330–E337)

      Andrew R. Cullinane, Anna Straatman-Iwanowska, Jeong K. Seo, Jae S. Ko, Kyung S. Song, Maria Gizewska, Dariusz Gruszfeld, Dorota Gliwicz, Beyhan Tuysuz, Gulin Erdemir, Rachid Sougrat, Yoshiyuki Wakabayashi, Rupert Hinds, Angela Barnicoat, Hanna Mandel, David Chitayat, Björn Fischler, Angels Garcia-Cazorla, A. S. Knisely, Deirdre A. Kelly, Eamonn R. Maher and Paul Gissen

      Article first published online: 13 OCT 2008 | DOI: 10.1002/humu.20900

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      Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia (pages E338–E344)

      Kristel Sleegers, Karolien Bettens, Nathalie Brouwers, Sebastiaan Engelborghs, Helen van Miegroet, Peter P De Deyn and Christine Van Broeckhoven

      Article first published online: 13 OCT 2008 | DOI: 10.1002/humu.20909

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      Analysis of the DYSF mutational spectrum in a large cohort of patients (pages E345–E375)

      Martin Krahn, Christophe Béroud, Véronique Labelle, Karine Nguyen, Rafaëlle Bernard, Guillaume Bassez, Dominique Figarella-Branger, Carla Fernandez, Julien Bouvenot, Isabelle Richard, Elisabeth Ollagnon-Roman, Jorge A. Bevilacqua, Eric Salvo, Shahram Attarian, Françoise Chapon, Jean-François Pellissier, Jean Pouget, El Hadi Hammouda, Pascal Laforêt, Jon Andoni Urtizberea, Bruno Eymard, France Leturcq and Nicolas Lévy

      Article first published online: 13 OCT 2008 | DOI: 10.1002/humu.20910

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      Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 (pages E376–E385)

      Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, Nathalie Carriere, Véronique Paquis, Christel Depienne, Alexandra Durr, Giovanni Stevanin and Alexis Brice

      Article first published online: 13 OCT 2008 | DOI: 10.1002/humu.20920

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      COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome (pages E395–E403)

      Sofie Symoens, Fransiska Malfait, Marjolijn Renard, Josette André, Ingrid Hausser, Bart Loeys, Paul Coucke and Anne De Paepe

      Article first published online: 29 OCT 2008 | DOI: 10.1002/humu.20887

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      Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1 (pages E404–E420)

      Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, Kimia Kahrizi, Andreas Tzschach, Masoud Garshasbi, Hossein Najmabadi, Andreas Walter Kuss, Wolfram Kress, Geneviève Laureys, Bart Loeys, Eva Brilstra, Grazia M.S. Mancini, Hélène Dollfus, Karin Dahan, Kira Apse, Hans Christian Hennies and Denise Horn

      Article first published online: 12 NOV 2008 | DOI: 10.1002/humu.20886

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      In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation (pages E421–E431)

      Delphine Trochet, Yves Mathieu, Loïc de Pontual, Ravi Savarirayan, Arnold Munnich, Jean-François Brunet, Stanislas Lyonnet, Christo Goridis and Jeanne Amiel

      Article first published online: 4 DEC 2008 | DOI: 10.1002/humu.20923

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      MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement (pages E432–E442)

      Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D'Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Loncarevic, Vlatka Mejaski-Bosnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo D. Salpietro, Sabrina Signorini, Gilda Rita Stringini, Alain Verloes, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson and Enza Maria Valente

      Article first published online: 4 DEC 2008 | DOI: 10.1002/humu.20924

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      Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system (pages E443–E450)

      Caroline Bleicken, Lourdes Loidi, Vivek Dhir, Silvia Parajes, Celsa Quinteiro, Fernando Dominguez, Joachim Grötzinger, Wolfgang G. Sippell, Felix G. Riepe, Wiebke Arlt and Nils Krone

      Article first published online: 4 DEC 2008 | DOI: 10.1002/humu.20926

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      Mutational profiling of cancer candidate genes in glioblastoma, melanoma and pancreatic carcinoma reveals a snapshot of their genomic landscapes (pages E451–E459)

      Fonnet E. Bleeker, Simona Lamba, Monica Rodolfo, Aldo Scarpa, Sieger Leenstra, W. Peter Vandertop and Alberto Bardelli

      Article first published online: 4 DEC 2008 | DOI: 10.1002/humu.20927

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