DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8243" target="_blank" >RIV/00064203:_____/12:8243 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/12:8243

Result on the web

<a href="http://dx.doi.org/10.1111/j.1399-0004.2011.01817.x" target="_blank" >http://dx.doi.org/10.1111/j.1399-0004.2011.01817.x</a>

DOI - Digital Object Identifier

—

Result language

angličtina

Original language name

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population

Original language description

Due to endogamy, the Roma have a higher risk for autosomal recessive (AR) disorders. We used homozygosity mapping on single-nucleotide polymorphism chips in one Czech Roma consanguineous family with non-syndromic hearing loss (NSHL). The second largest homozygous region in a deaf patient was mapped to the previously reported DFNB49 region. The MARVELD2 gene was recently reported as a causal gene for NSHL DFNB49. Sequencing of the MARVELD2 gene revealed a previously reported homozygous mutation c.1331+2T>C (IVS4 + 2 T>C) in the deaf child. Subsequently, the same mutation was found in two more Roma families from an additional 19 unrelated Czech Roma patients with deafness tested for the MARVELD2 gene. To explore the importance of MARVELD2 mutations andDFNB49 for the general Czech and Central European population with early hearing loss we also tested 40 unrelated Czech patients with AR NSHL. No pathogenic mutation in the MARVELD2 gene was found in a group of 40 Czech non-Roma patients.

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

—

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

2012

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

—

Volume of the periodical

82

Issue of the periodical within the volume

6

Country of publishing house

DK - DENMARK

Number of pages

4

Pages from-to

579-582

UT code for WoS article

000310728700015

EID of the result in the Scopus database

—