Literature DB >> 11533912

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

M L Kennerson1, D Zhu, R J Gardner, E Storey, J Merory, S P Robertson, G A Nicholson.   

Abstract

The hereditary disorders of peripheral nerve form one of the most common groups of human genetic diseases, collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage analysis we have identified a new locus for a form of CMT that we have called "dominant intermediate CMT" (DI-CMT). A genomewide screen using 383 microsatellite markers showed strong linkage to the short arm of chromosome 19 (maximum LOD score 4.3, with a recombination fraction (straight theta) of 0, at D19S221 and maximum LOD score 5.28, straight theta=0, at D19S226). Haplotype analysis performed with 14 additional markers placed the DI-CMT locus within a 16.8-cM region flanked by the markers D19S586 and D19S546. Multipoint linkage analysis suggested the most likely location at D19S226 (maximum multipoint LOD score 6.77), within a 10-cM confidence interval. This study establishes the presence of a locus for DI-CMT on chromosome 19p12-p13.2.

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Year:  2001        PMID： 11533912      PMCID： PMC1226074          DOI： 10.1086/323743

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  40 in total

1.  A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Authors:  I V Mersiyanova; A V Perepelov; A V Polyakov; V F Sitnikov; E L Dadali; R B Oparin; A N Petrin; O V Evgrafov
Journal:  Am J Hum Genet       Date:  2000-06-07       Impact factor: 11.025

Review 2.  Molecular genetics of inherited peripheral neuropathies: who are the actors?

Authors:  J Meuleman; V Timmerman; E Nelis; P De Jonghe
Journal:  Acta Neurol Belg       Date:  2000-09       Impact factor: 2.396

3.  N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Authors:  L Kalaydjieva; D Gresham; R Gooding; L Heather; F Baas; R de Jonge; K Blechschmidt; D Angelicheva; D Chandler; P Worsley; A Rosenthal; R H King; P K Thomas
Journal:  Am J Hum Genet       Date:  2000-05-30       Impact factor: 11.025

4.  A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Authors:  A Guilbot; A Williams; N Ravisé; C Verny; A Brice; D L Sherman; P J Brophy; E LeGuern; V Delague; C Bareil; A Mégarbané; M Claustres
Journal:  Hum Mol Genet       Date:  2001-02-15       Impact factor: 6.150

5.  A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

Authors:  H Houlden; R H King; A Hashemi-Nejad; N W Wood; C J Mathias; M Reilly; P K Thomas
Journal:  Ann Neurol       Date:  2001-04       Impact factor: 10.422

6.  Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.

Authors:  M Bodzioch; K Lapicka; C Aslanidis; M Kacinski; G Schmitz
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

7.  Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.

Authors:  D M Reynolds; C T Falk; A Li; B F King; P S Kamath; J Huston; C Shub; D M Iglesias; R S Martin; Y Pirson; V E Torres; S Somlo
Journal:  Am J Hum Genet       Date:  2000-10-23       Impact factor: 11.025

8.  The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.

Authors:  G A Nicholson; J L Dawkins; I P Blair; M L Kennerson; M J Gordon; A K Cherryson; J Nash; T Bananis
Journal:  Nat Genet       Date:  1996-05       Impact factor: 38.330

9.  Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

Authors:  C Zhao; J Takita; Y Tanaka; M Setou; T Nakagawa; S Takeda; H W Yang; S Terada; T Nakata; Y Takei; M Saito; S Tsuji; Y Hayashi; N Hirokawa
Journal:  Cell       Date:  2001-06-01       Impact factor: 41.582

10.  Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.

Authors:  J Senderek; B Hermanns; U Lehmann; C Bergmann; G Marx; C Kabus; V Timmerman; G Stoltenburg-Didinger; J M Schröder
Journal:  Brain Pathol       Date:  2000-04       Impact factor: 6.508
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  12 in total

Review 1.  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

Review 2.  Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.

Authors:  Garth Nicholson; Simon Myers
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 3.  Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Authors:  José Berciano; Antonio García; Elena Gallardo; Kristien Peeters; Ana L Pelayo-Negro; Silvia Álvarez-Paradelo; José Gazulla; Miriam Martínez-Tames; Jon Infante; Albena Jordanova
Journal:  J Neurol       Date:  2017-03-31       Impact factor: 4.849

4.  Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.

Authors:  Florian P Thomas; Velina Guergueltcheva; Francisco A A Gondim; Ivailo Tournev; Chitharanjan V Rao; Boryana Ishpekova; Laurence J Kinsella; Yi Pan; Thomas J Geller; Ivan Litvinenko; Peter De Jonghe; Steven S Scherer; Albena Jordanova
Journal:  J Neurol       Date:  2016-01-02       Impact factor: 4.849

5.  [A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].

Authors:  D Bönsch; C M Schmidt; P Scheer; J Bohlender; C Neumann; A am Zehnhoff-Dinnesen; T Deufel
Journal:  HNO       Date:  2008-02       Impact factor: 1.284

6.  Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region.

Authors:  Danqing Zhu; Marina Kennerson; John Merory; Roman Chrast; Mark Verheijen; Greg Lemke; Garth Nicholson
Journal:  Neurogenetics       Date:  2003-05-22       Impact factor: 2.660

7.  Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.

Authors:  Albena Jordanova; Florian P Thomas; Velina Guergueltcheva; Ivailo Tournev; Francisco A A Gondim; Borjana Ishpekova; Els De Vriendt; An Jacobs; Ivan Litvinenko; Neviana Ivanova; Borjan Buzhov; Peter De Jonghe; Ivo Kremensky; Vincent Timmerman
Journal:  Am J Hum Genet       Date:  2003-11-06       Impact factor: 11.025

8.  Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

Authors:  Kristl G Claeys; Stephan Züchner; Marina Kennerson; José Berciano; Antonio Garcia; Kristien Verhoeven; Elsdon Storey; John R Merory; Henriette M E Bienfait; Martin Lammens; Eva Nelis; Jonathan Baets; Els De Vriendt; Zwi N Berneman; Ilse De Veuster; Jefferey M Vance; Garth Nicholson; Vincent Timmerman; Peter De Jonghe
Journal:  Brain       Date:  2009-06-05       Impact factor: 13.501

9.  Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

Authors:  Nyamkhishig Sambuughin; Lev G Goldfarb; Tatiana M Sivtseva; Tatiana K Davydova; Vsevolod A Vladimirtsev; Vladimir L Osakovskiy; Al'bina P Danilova; Raisa S Nikitina; Anastasia N Ylakhova; Margarita P Diachkovskaya; Anna C Sundborger; Neil M Renwick; Fyodor A Platonov; Jenny E Hinshaw; Camilo Toro
Journal:  BMC Neurol       Date:  2015-10-30       Impact factor: 2.474

10.  Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant.

Authors:  Kenji Tanabe; Kohji Takei
Journal:  J Cell Biol       Date:  2009-06-15       Impact factor: 10.539
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