High frequency of SH3TC2 mutations in Czech HMSN I patients

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

High frequency of SH3TC2 mutations in Czech HMSN I patients

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

High frequency of SH3TC2 mutations in Czech HMSN I patients

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/NT11521" target="_blank" >NT11521: Autosomálně recesívní typ dědičné neuropatie CMT4C - analýza genu SH3TC2 a klinicko genetická studie u českých pacientů s demyelinizačním typem neuropatie pro efektivní a cílenou diagnostiku a terapii CMT.</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2011

Kód důvěrnosti údajů

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

Název periodika

Clinical Genetics

ISSN

0009-9163

e-ISSN

—

Svazek periodika

80

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

12

Strana od-do

334-345

Kód UT WoS článku

000294920600005

EID výsledku v databázi Scopus

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