High frequency of SH3TC2 mutations in Czech HMSN I patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F11%3A00052278" target="_blank" >RIV/00216224:14110/11:00052278 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/11:7093 RIV/65269705:_____/11:#0001240 RIV/00064203:_____/11:7093

Result on the web

<a href="http://dx.doi.org/10.1111/j.1399-0004.2011.01640.x" target="_blank" >http://dx.doi.org/10.1111/j.1399-0004.2011.01640.x</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/j.1399-0004.2011.01640.x" target="_blank" >10.1111/j.1399-0004.2011.01640.x</a>

Result language

angličtina

Original language name

High frequency of SH3TC2 mutations in Czech HMSN I patients

Original language description

Charcot?Marie?Tooth (CMT) neuropathy type 4C (CMT4C) is an autosomal recessive (AR), demyelinating neuropathy with early spine deformities caused by mutations in the SH3TC2 gene. To determine the spectrum of SH3TC2 mutations in the Czech population, theentire coding region of SH3TC2 was sequenced in 60 unrelated Czech patients. The prevalent mutation was shown to be the p.Arg954Stop. Therefore, 412 additional patients referred for CMT testing were tested for the presence of p.Arg954Stop only. Of 60 patients in whom the SH3TC2 gene was sequenced, at least one mutation was detected in 13 (21.7%) patients and biallelic pathogenic mutations were detected in 7 (11.6%) patients. Of the 412 patients tested for p.Arg954Stop, the mutation was found in 8 patients (1.94%), 6 were homozygous and 2 were heterozygous. The second causative mutation was detected by sequencing in one of the patients but not in the other. Nine novel sequence variants were detected.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NT11521" target="_blank" >NT11521: Autosomal recessive demyelinating neuropathy type CMT4C ? analysis of the SH3TC2 gene and a clinical study.</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2011

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Clinical Genetics

ISSN

0009-9163

e-ISSN

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Volume of the periodical

80

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

12

Pages from-to

334-345

UT code for WoS article

000294920600005

EID of the result in the Scopus database

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