Literature DB >> 20689565

Peripheral neuropathies: whole genome sequencing identifies causal variants in CMT.

Stephan Züchner.   

Abstract

For the first time, medical sequencing has been successfully performed at the genome level to identify the causative gene in an individual with autosomal recessive Charcot-Marie-Tooth disease. The results of sequencing a proband with this condition highlight some of the opportunities and challenges of this seemingly ultimate approach to human genetics research and diagnostics.

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Year:  2010        PMID： 20689565     DOI： 10.1038/nrneurol.2010.108

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


  5 in total

1.  Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Authors:  L Dvoráková; G Storkánová; G Unterrainer; J Hujová; S Kmoch; J Zeman; M Hrebícek; J Berger
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

2.  Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Authors:  James R Lupski; Jeffrey G Reid; Claudia Gonzaga-Jauregui; David Rio Deiros; David C Y Chen; Lynne Nazareth; Matthew Bainbridge; Huyen Dinh; Chyn Jing; David A Wheeler; Amy L McGuire; Feng Zhang; Pawel Stankiewicz; John J Halperin; Chengyong Yang; Curtis Gehman; Danwei Guo; Rola K Irikat; Warren Tom; Nick J Fantin; Donna M Muzny; Richard A Gibbs
Journal:  N Engl J Med       Date:  2010-03-10       Impact factor: 91.245

3.  Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Authors:  Jan Senderek; Carsten Bergmann; Claudia Stendel; Jutta Kirfel; Nathalie Verpoorten; Peter De Jonghe; Vincent Timmerman; Roman Chrast; Mark H G Verheijen; Greg Lemke; Esra Battaloglu; Yesim Parman; Sevim Erdem; Ersin Tan; Haluk Topaloglu; Andreas Hahn; Wolfgang Müller-Felber; Nicolò Rizzuto; Gian Maria Fabrizi; Manfred Stuhrmann; Sabine Rudnik-Schöneborn; Stephan Züchner; J Michael Schröder; Eckhard Buchheim; Volker Straub; Jörg Klepper; Kathrin Huehne; Bernd Rautenstrauss; Reinhard Büttner; Eva Nelis; Klaus Zerres
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025

4.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330

5.  Exome sequencing of a multigenerational human pedigree.

Authors:  Dale J Hedges; Dale Hedges; Dan Burges; Eric Powell; Cherylyn Almonte; Jia Huang; Stuart Young; Benjamin Boese; Mike Schmidt; Margaret A Pericak-Vance; Eden Martin; Xinmin Zhang; Timothy T Harkins; Stephan Züchner
Journal:  PLoS One       Date:  2009-12-14       Impact factor: 3.240
  5 in total
  3 in total

Review 1.  [Genetics of neuropathies].

Authors:  B Gess; A Schirmacher; P Young
Journal:  Nervenarzt       Date:  2013-02       Impact factor: 1.214

2.  Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.

Authors:  Jennifer Hirst; Georg H H Borner; James Edgar; Marco Y Hein; Matthias Mann; Frank Buchholz; Robin Antrobus; Margaret S Robinson
Journal:  Mol Biol Cell       Date:  2013-07-03       Impact factor: 4.138

3.  Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

Authors:  Vincent Timmerman; Alleene V Strickland; Stephan Züchner
Journal:  Genes (Basel)       Date:  2014-01-22       Impact factor: 4.096
  3 in total

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