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@article{938033,
author = {Laššuthová, Petra and Mazanec, Radim and Vondráček, Petr and Šišková, Dana and Haberlová, Jana and Sabová, Jana and Seeman, Pavel},
article_number = {4},
doi = {http://dx.doi.org/10.1111/j.1399-0004.2011.01640.x},
keywords = {Charcot; Marie; Tooth 4C; mutation; peripheral neuropathy; SH3TC2 gene},
language = {eng},
issn = {0009-9163},
journal = {Clinical Genetics},
title = {High frequency of SH3TC2 mutations in Czech HMSN I patients},
url = {http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2011.01640.x/abstract},
volume = {80},
year = {2011}
}
TY - JOUR
ID - 938033
AU - Laššuthová, Petra - Mazanec, Radim - Vondráček, Petr - Šišková, Dana - Haberlová, Jana - Sabová, Jana - Seeman, Pavel
PY - 2011
TI - High frequency of SH3TC2 mutations in Czech HMSN I patients
JF - Clinical Genetics
VL - 80
IS - 4
SP - 334-345
EP - 334-345
SN - 00099163
KW - Charcot
KW - Marie
KW - Tooth 4C
KW - mutation
KW - peripheral neuropathy
KW - SH3TC2 gene
UR - http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2011.01640.x/abstract
N2 - 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, the entire 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. Their pathogenicity was further tested in silico and in control samples. Mutations in the SH3TC2 gene are a frequent cause of demyelinating hereditary neuropathy among Czech patients. In total, at least one mutation was found in 21 unrelated patients. CMT4C seems to be the most frequent type of AR CMT and one of the most frequent of all CMT types. Mutation p.Arg954Stop is highly prevalent in the Czech population. Patients with demyelinating neuropathy along with non-dominant mode of inheritance and negative for CMT1A/hereditary neuropathy with liability to pressure palsy should be tested for the presence of the p.Arg954Stop mutation or other mutations in the SH3TC2 gene.
ER -
LAŠŠUTHOVÁ, Petra, Radim MAZANEC, Petr VONDRÁČEK, Dana ŠIŠKOVÁ, Jana HABERLOVÁ, Jana SABOVÁ a Pavel SEEMAN. High frequency of SH3TC2 mutations in Czech HMSN I patients. \textit{Clinical Genetics}. 2011, roč.~80, č.~4, s.~334-345. ISSN~0009-9163. Dostupné z: https://dx.doi.org/10.1111/j.1399-0004.2011.01640.x.
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