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

Result code in 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>
Alternative codes found
RIV/68378050:_____/12:00386622 RIV/00216208:11130/12:8237
Result on the web
<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
—

Result language
angličtina
Original language name
Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene
Original language description
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
Czech name
—
Czech description
—

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
—

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)