Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8237" target="_blank" >RIV/00064203:_____/12:8237 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/68378050:_____/12:00386622 RIV/00216208:11130/12:8237

Výsledek na webu

<a href="http://dx.doi.org/10.3109/01677063.2012.711398" target="_blank" >http://dx.doi.org/10.3109/01677063.2012.711398</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene

Popis výsledku v původním jazyce

Charcot-Marie-Tooth (CMT) neuropathy is the most common inherited neuromuscular disorder. CMT is genetically very heterogeneous. Mutations in the SH3TC2 gene cause Charcot-Marie-Tooth neuropathy type 4C (CMT4C), a demyelinating form with autosomal recessive inheritance. In this study, two novel splice site mutations in the SH3TC2 gene have been studied (c.279G -> A, c.3676-8G -> A). Mutation c.279G -> A was detected on one allele in two unrelated families with CMT4C in combination with a known pathogenic mutation (c.2860 C -> T in one family, c.505T -> C in the other) on the second allele of SH3TC2 gene. Variant c.3676-8G -> A was detected in two patients from unrelated families on one allele of the SH3TC2 gene in combination with c.2860C -> T mutationon the other allele. Several in silico tests were performed and exon trap experiments were undertaken in order to prove the effect of both mutations on proper splicing of SH3TC2. Fragments of SH3TC2 were subcloned into pET01 exon trap ve

Název v anglickém jazyce

Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene

Popis výsledku anglicky

Charcot-Marie-Tooth (CMT) neuropathy is the most common inherited neuromuscular disorder. CMT is genetically very heterogeneous. Mutations in the SH3TC2 gene cause Charcot-Marie-Tooth neuropathy type 4C (CMT4C), a demyelinating form with autosomal recessive inheritance. In this study, two novel splice site mutations in the SH3TC2 gene have been studied (c.279G -> A, c.3676-8G -> A). Mutation c.279G -> A was detected on one allele in two unrelated families with CMT4C in combination with a known pathogenic mutation (c.2860 C -> T in one family, c.505T -> C in the other) on the second allele of SH3TC2 gene. Variant c.3676-8G -> A was detected in two patients from unrelated families on one allele of the SH3TC2 gene in combination with c.2860C -> T mutationon the other allele. Several in silico tests were performed and exon trap experiments were undertaken in order to prove the effect of both mutations on proper splicing of SH3TC2. Fragments of SH3TC2 were subcloned into pET01 exon trap ve

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

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2012

Kód důvěrnosti údajů

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

Název periodika

Journal of Neurogenetics

ISSN

0167-7063

e-ISSN

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Svazek periodika

26

Číslo periodika v rámci svazku

IV 03

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

8

Strana od-do

413-420

Kód UT WoS článku

000311679300021

EID výsledku v databázi Scopus

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