Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6246" target="_blank" >RIV/00064203:_____/10:6246 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/10:6246

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene

Original language description

We examined 11 families with novel MPZ mutations. Eight of the mutations (L48Q, T65N, E97fs, G103W, P132T, T143R, V146G, c. 645+ 1G>T) seem to be pathogenic on the basis of perfect segregation with the CMT phenotype and two (G213R and D246N), on the contrary, seem to be non-pathogenic/rare polymorphisms because they are present in healthy relatives. The character of the V46M mutation is difficult to interpret definitely; it may cause a sensory neuropathy or may also be a rare polymorphism. Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III (HMSN III), and mild phenotype CMT1B presented mostly with only decreased or absent reflexes, foot deformities and mild or even absent atrophies in the lower limbs.

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/NS10552" target="_blank" >NS10552: Analysis of the BSCL 2 gene and a clinical study among Czech patients with hereditary motor neuropathy.</a><br>

Continuities

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

Publication year

2010

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

78

Issue of the periodical within the volume

1

Country of publishing house

DK - DENMARK

Number of pages

7

Pages from-to

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UT code for WoS article

000278397300013

EID of the result in the Scopus database

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