Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F10%3A00002450" target="_blank" >RIV/00216208:11120/10:00002450 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/10:6319 RIV/00064203:_____/10:6319 RIV/00216224:14310/10:00051580 RIV/00216224:14310/10:00074543 RIV/00064173:_____/10:#0000386

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency

Original language description

Congenital adrenal hyperplasia (CAH) is comprised of a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in most of the severe cases, also the biosynthesis of aldosterone. Approximately 90-95% of all the CAH cases are due to mutations in the steroid 21-hydroxylase gene (CYP21A2). In this study, the molecular genetic analysis of CYP21A2 was performed in 267 Czech probands suspected of 21-hydroxylase deficiency (21OHD). 21OHD was confirmed in 241 probands (2 mutations were detected). In 26 probands, a mutation was found only in 1 CYP21A2 allele. A set of 30 different mutant alleles was determined. We describe i) mutated CYP21A2 alleles carrying novel point mutations (p.Thr168Asn, p.Ser169X and p.Pro386Arg), ii) mutatedCYP21A2 alleles carrying the novel chimeric gene designated as CH-7, which was detected in 21.4% of the mutant alleles, iii) an unusual genotype with a combination of the CYP21A2 duplication, 2 point mut

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

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2010

Confidentiality

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

Name of the periodical

International Journal of Molecular Medicine

ISSN

1107-3756

e-ISSN

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Volume of the periodical

26

Issue of the periodical within the volume

4

Country of publishing house

GR - GREECE

Number of pages

9

Pages from-to

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UT code for WoS article

000281917800021

EID of the result in the Scopus database

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