Literature DB >> 1349106

De-novo mutation in hereditary motor and sensory neuropathy type I.

J E Hoogendijk1, G W Hensels, A A Gabreëls-Festen, F J Gabreëls, E A Janssen, P de Jonghe, J J Martin, C van Broeckhoven, L J Valentijn, F Baas.   

Abstract

Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients. This finding has important implications for genetic counselling of isolated patients with HMSN I.

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Year:  1992        PMID： 1349106     DOI： 10.1016/0140-6736(92)90668-s

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  30 in total

Review 1.  Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.

Authors:  Kinga Szigeti; Eva Nelis; James R Lupski
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

2.  Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

Authors:  I P Blair; J Nash; M J Gordon; G A Nicholson
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

3.  Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.

Authors:  S Bort; F Martínez; F Palau
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

Review 4.  Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.

Authors:  D Pareyson; V Scaioli; M Laurà
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

5.  Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Authors:  C A Wise; C A Garcia; S N Davis; Z Heju; L Pentao; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

6.  Homozygous hypertrophic hereditary motor and sensory neuropathies.

Authors:  A Sghirlanzoni; D Pareyson; R Marazzi; G Cavaletti; E Bellone; P Mandich; M R Balestrini; D Riva
Journal:  Ital J Neurol Sci       Date:  1994-02

Review 7.  Diagnosis of Charcot-Marie-Tooth disease.

Authors:  Isabel Banchs; Carlos Casasnovas; Antonia Albertí; Laura De Jorge; Mónica Povedano; Jordi Montero; Juan Antonio Martínez-Matos; Victor Volpini
Journal:  J Biomed Biotechnol       Date:  2009-10-08

8.  Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.

Authors:  Jong Rak Choi; Woon Hyoung Lee; Il Nam Sunwoo; Eun Kyung Lee; Chang Hoon Lee; Jong Baeck Lim
Journal:  Yonsei Med J       Date:  2005-06-30       Impact factor: 2.759

9.  Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Authors:  Claudia Gonzaga-Jauregui; Tamar Harel; Tomasz Gambin; Maria Kousi; Laurie B Griffin; Ludmila Francescatto; Burcak Ozes; Ender Karaca; Shalini N Jhangiani; Matthew N Bainbridge; Kim S Lawson; Davut Pehlivan; Yuji Okamoto; Marjorie Withers; Pedro Mancias; Anne Slavotinek; Pamela J Reitnauer; Meryem T Goksungur; Michael Shy; Thomas O Crawford; Michel Koenig; Jason Willer; Brittany N Flores; Igor Pediaditrakis; Onder Us; Wojciech Wiszniewski; Yesim Parman; Anthony Antonellis; Donna M Muzny; Nicholas Katsanis; Esra Battaloglu; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal:  Cell Rep       Date:  2015-08-06       Impact factor: 9.423

10.  Charcot-Marie-Tooth disease.

Authors:  Kinga Szigeti; James R Lupski
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246
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