Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A13575" target="_blank" >RIV/00216208:11110/12:13575 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/12:13575

Result on the web

<a href="http://dx.doi.org/10.1136/jmedgenet-2011-100577" target="_blank" >http://dx.doi.org/10.1136/jmedgenet-2011-100577</a>

DOI - Digital Object Identifier

—

Result language

angličtina

Original language name

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Original language description

Background Mitochondrial complex I deficiency is the most common cause of mitochondrial disease in childhood. Identification of the molecular basis is difficult given the clinical and genetic heterogeneity. Most patients lack a molecular definition in routine diagnostics. Methods A large-scale mutation screen of 75 candidate genes in 152 patients with complex I deficiency was performed by high-resolution melting curve analysis and Sanger sequencing. The causal role of a new disease allele was confirmedby functional complementation assays. The clinical phenotype of patients carrying mutations was documented using a standardised questionnaire. Results Causative mutations were detected in 16 genes, 15 of which had previously been associated with complexI deficiency: three mitochondrial DNA genes encoding complex I subunits, two mitochondrial tRNA genes and nuclear DNA genes encoding six complex I subunits and four assembly factors. For the first time, a causal mutation is described in N

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

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2012

Confidentiality

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

Name of the periodical

Journal of Medical Genetics

ISSN

0022-2593

e-ISSN

—

Volume of the periodical

49

Issue of the periodical within the volume

2

Country of publishing house

GB - UNITED KINGDOM

Number of pages

7

Pages from-to

83-89

UT code for WoS article

000299308900004

EID of the result in the Scopus database

—