Human Mutation

Cover image for Human Mutation

May 2010

Volume 31, Issue 5

Pages v–v, 505–621, E1319–E1435

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. You have free access to this content
      The value of countrywide mutation reporting (page v)

      Richard G.H. Cotton

      Version of Record online: 26 APR 2010 | DOI: 10.1002/humu.21262

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      Toward a cellular model of microvillus inclusion disease (page v)

      Andrew O.M. Wilkie

      Version of Record online: 26 APR 2010 | DOI: 10.1002/humu.21263

  2. Reviews

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. You have free access to this content
  3. Mutation Update

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. You have free access to this content
      Genetic analysis of von Hippel-Lindau disease (pages 521–537)

      Morgan Nordstrom-O'Brien, Rob B. van der Luijt, Ellen van Rooijen, Ans M. van den Ouweland, Danielle F. Majoor-Krakauer, Martijn P. Lolkema, Aram van Brussel, Emile E. Voest and Rachel H. Giles

      Version of Record online: 11 FEB 2010 | DOI: 10.1002/humu.21219

  4. Research Articles

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells (pages 538–543)

      Rui Bi, A-Mei Zhang, Wen Zhang, Qing-Peng Kong, Bei-Ling Wu, Xiao-Hong Yang, Dong Wang, Yang Zou, Ya-Ping Zhang and Yong-Gang Yao

      Version of Record online: 11 FEB 2010 | DOI: 10.1002/humu.21220

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      Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model (pages 544–551)

      Frank M. Ruemmele, Thomas Müller, Natalia Schiefermeier, Hannes L. Ebner, Silvia Lechner, Kristian Pfaller, Cornelia E. Thöni, Olivier Goulet, Florence Lacaille, Jacques Schmitz, Virginie Colomb, Frédérique Sauvat, Yann Revillon, Danielle Canioni, Nicole Brousse, Genevieve de Saint-Basile, Juliette Lefebvre, Peter Heinz-Erian, Axel Enninger, Gerd Utermann, Michael W. Hess, Andreas R. Janecke and Lukas A. Huber

      Version of Record online: 25 FEB 2010 | DOI: 10.1002/humu.21224

    3. Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event (pages 552–560)

      Christina Ganster, Annekatrin Wernstedt, Hildegard Kehrer-Sawatzki, Ludwine Messiaen, Konrad Schmidt, Nils Rahner, Karl Heinimann, Christa Fonatsch, Johannes Zschocke and Katharina Wimmer

      Version of Record online: 25 FEB 2010 | DOI: 10.1002/humu.21223

    4. Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study (pages 561–568)

      Eng-King Tan, Rong Peng, Yik-Ying Teo, Louis C. Tan, Dario Angeles, Patrick Ho, Meng-Ling Chen, Chin-Hsien Lin, Xue-Ye Mao, Xue-Li Chang, Kumar M Prakash, Jian-Jun Liu, Wing-Lok Au, Wei-Dong Le, Joseph Jankovic, Jean-Marc Burgunder, Yi Zhao and Ruey-Meei Wu

      Version of Record online: 25 FEB 2010 | DOI: 10.1002/humu.21225

    5. Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B (pages 569–577)

      Leiah M. Luoma, Taha M.M. Deeb, Georgina Macintyre and Diane W. Cox

      Version of Record online: 26 APR 2010 | DOI: 10.1002/humu.21228

    6. Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients (pages 578–587)

      Heleen M. van der Klift, Carli M.J. Tops, Elsa C. Bik, Merel W. Boogaard, Anne-Marijke Borgstein, Kerstin B.M. Hansson, Margreet G.E.M. Ausems, Encarna Gomez Garcia, Andrew Green, Frederik J. Hes, Louise Izatt, Liselotte P. van Hest, Angel M. Alonso, Annette H.J.T. Vriends, Anja Wagner, Wendy A.G. van Zelst-Stams, Hans F.A. Vasen, Hans Morreau, Peter Devilee and Juul T. Wijnen

      Version of Record online: 25 FEB 2010 | DOI: 10.1002/humu.21229

    7. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes (pages 588–593)

      Cecily P. Vaughn, Jorge Robles, Jeffrey J. Swensen, Christine E. Miller, Elaine Lyon, Rong Mao, Pinar Bayrak-Toydemir and Wade S. Samowitz

      Version of Record online: 4 MAR 2010 | DOI: 10.1002/humu.21230

    8. Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis (pages 594–601)

      Robert C. Bauer, Ayanna O. Laney, Rosemarie Smith, Jennifer Gerfen, Jennifer J.D. Morrissette, Stacy Woyciechowski, Jennifer Garbarini, Kathleen M. Loomes, Ian D. Krantz, Zsolt Urban, Bruce D. Gelb, Elizabeth Goldmuntz and Nancy B. Spinner

      Version of Record online: 26 APR 2010 | DOI: 10.1002/humu.21231

    9. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1α in autosomal recessive hypotrichosis (pages 602–610)

      Satoru Shinkuma, Masashi Akiyama, Asuka Inoue, Junken Aoki, Ken Natsuga, Toshifumi Nomura, Ken Arita, Riichiro Abe, Kei Ito, Hideki Nakamura, Hideyuki Ujiie, Akihiko Shibaki, Hiraku Suga, Yuichiro Tsunemi, Wataru Nishie and Hiroshi Shimizu

      Version of Record online: 8 MAR 2010 | DOI: 10.1002/humu.21235

  5. Methods

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. You have free access to this content
      Functional evaluation of paraplegin mutations by a yeast complementation assay (pages 617–621)

      Florian Bonn, Krishna Pantakani, Moneef Shoukier, Thomas Langer and Ashraf U. Mannan

      Version of Record online: 25 FEB 2010 | DOI: 10.1002/humu.21226

  6. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutations in Brief
    1. You have free access to this content
      Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies (pages E1319–E1331)

      Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D'Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, Elizabeth Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attie-Bitach and Enza Maria Valente

      Version of Record online: 15 MAR 2010 | DOI: 10.1002/humu.21239

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      FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions (pages E1332–E1347)

      B. D'haene, J. Nevado, M. Pugeat, G. Pierquin, R.B. Lowry, W. Reardon, A. Delicado, S. García-Miñaur, M. Palomares, W. Courtens, M. Stefanova, S. Wallace, W. Watkins, A. N. Shelling, D. Wieczorek, R. A. Veitia, A. De Paepe, P. Lapunzina and E. De Baere

      Version of Record online: 15 MAR 2010 | DOI: 10.1002/humu.21233

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      Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations (pages E1348–E1360)

      Marlies J. Valstar, Aida M. Bertoli-Avella, Marja W. Wessels, George J.G. Ruijter, Bianca de Graaf, Renske Olmer, Peter Elfferich, Sanne Neijs, Roxana Kariminejad, Fatih Suheyl Ezgü, Aysegul Tokatli, Barbara Czartoryska, Ad N. Bosschaart, Feikje van den Bos-Terpstra, Hugues Puissant, Friederike Bürger, Heymut Omran, D. Eckert, Mirella Filocamo, Emil Simeonov, Patrick J. Willems, Ron A. Wevers, Martinus F. Niermeijer, Dicky J.J. Halley, Ben J.H.M. Poorthuis and Otto P. van Diggelen

      Version of Record online: 15 MAR 2010 | DOI: 10.1002/humu.21234

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      Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes (pages E1361–E1376)

      Katherine V. Towns, Athina Kipioti, Vernon Long, Martin McKibbin, Cecilia Maubaret, Veronika Vaclavik, Parastoo Ehsani, Kelly Springell, Mohammed Kamal, Raj S. Ramesar, David A. Mackey, Anthony T. Moore, Rajarshi Mukhopadhyay, Andrew R. Webster, Graeme C.M. Black, James O'Sullivan, Shomi S. Bhattacharya, Eric A. Pierce, Jean D. Beggs and Chris F. Inglehearn

      Version of Record online: 15 MAR 2010 | DOI: 10.1002/humu.21236

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      De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis (pages E1377–E1389)

      Mariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, Richard Crook, Matt Baker, Pamela Desaro, Amelia Johnston, Nicola Rutherford, Aleksandra Wojtas, Kathleen Kennelly, Zbigniew K. Wszolek, Neill Graff-Radford, Kevin Boylan and Rosa Rademakers

      Version of Record online: 15 MAR 2010 | DOI: 10.1002/humu.21241

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      Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA) (pages E1390–E1405)

      Luigia De Falco, Francesca Totaro, Antonella Nai, Alessia Pagani, Domenico Girelli, Laura Silvestri, Carmelo Piscopo, Natascia Campostrini, Carlo Dufour, Fahd AL Manjomi, Milen Minkov, Dennis G. Van Vuurden, Aurora Feliu, Antonis Kattamis, Clara Camaschella and Achille Iolascon

      Version of Record online: 15 MAR 2010 | DOI: 10.1002/humu.21243

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      EYS is a major gene for rod-cone dystrophies in France (pages E1406–E1435)

      Isabelle Audo, José-Alain Sahel, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aline Antonio, Veselina Moskova-Doumanova, Emeline F. Nandrot, Jordan Doumanov, Isabel Barragan, Guillermo Antinolo, Shomi S. Bhattacharya and Christina Zeitz

      Version of Record online: 23 MAR 2010 | DOI: 10.1002/humu.21249

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