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

J 2010

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

VRZALOVÁ, Zuzana, Zuzana HRUBÁ, Eva STÁHLOVÁ HRABINCOVÁ, Slávka VRÁBELOVÁ, Felix VOTAVA et. al.

Basic information

Original name

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

Authors

VRZALOVÁ, Zuzana (203 Czech Republic), Zuzana HRUBÁ (203 Czech Republic), Eva STÁHLOVÁ HRABINCOVÁ (203 Czech Republic), Slávka VRÁBELOVÁ (203 Czech Republic), Felix VOTAVA (203 Czech Republic), Stanislava KOLOUSKOVÁ (203 Czech Republic) and Lenka FAJKUSOVÁ (203 Czech Republic, guarantor, belonging to the institution)

Edition

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, UNITED STATES, SPANDIDOS PUBL LTD, 2010, 1107-3756

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 1.814

RIV identification code

RIV/00216224:14310/10:00051580

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.3892/ijmm_00000504

UT WoS

000281917800021

Keywords in English

congenital adrenal hyperplasia; steroid 21-hydroxylase; 21-hydroxylase deficiency; pseudogene; chimeric gene

Abstract

V originále

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). A set of 30 different mutant alleles was determined.

Links

LC06023, research and development project

Name: Integrované bioanalytické technologie pro mikroanalýzy a diagnostiku s využitím LIF a hmotnostní spektrometrie

Investor: Ministry of Education, Youth and Sports of the CR

MSM0021622415, plan (intention)

Name: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations

Citovat

VRZALOVÁ, Zuzana, Zuzana HRUBÁ, Eva STÁHLOVÁ HRABINCOVÁ, Slávka VRÁBELOVÁ, Felix VOTAVA, Stanislava KOLOUSKOVÁ and Lenka FAJKUSOVÁ. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. UNITED STATES: SPANDIDOS PUBL LTD, 2010, vol. 26, No 4, p. 595-603. ISSN 1107-3756. Available from: https://dx.doi.org/10.3892/ijmm_00000504.

@article{913189,
   author = {Vrzalová, Zuzana and Hrubá, Zuzana and Stáhlová Hrabincová, Eva and Vrábelová, Slávka and Votava, Felix and Kolousková, Stanislava and Fajkusová, Lenka},
   article_location = {UNITED STATES},
   article_number = {4},
   doi = {http://dx.doi.org/10.3892/ijmm_00000504},
   keywords = {congenital adrenal hyperplasia; steroid 21-hydroxylase; 21-hydroxylase deficiency; pseudogene; chimeric gene},
   language = {eng},
   issn = {1107-3756},
   journal = {INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE},
   title = {Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency},
   volume = {26},
   year = {2010}
}

TY  - JOUR
ID  - 913189
AU  - Vrzalová, Zuzana - Hrubá, Zuzana - Stáhlová Hrabincová, Eva - Vrábelová, Slávka - Votava, Felix - Kolousková, Stanislava - Fajkusová, Lenka
PY  - 2010
TI  - Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency
JF  - INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
VL  - 26
IS  - 4
SP  - 595-603
EP  - 595-603
PB  - SPANDIDOS PUBL LTD
SN  - 11073756
KW  - congenital adrenal hyperplasia
KW  - steroid 21-hydroxylase
KW  - 21-hydroxylase deficiency
KW  - pseudogene
KW  - chimeric gene
N2  - 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). A set of 30 different mutant alleles was determined.
ER  -

VRZALOVÁ, Zuzana, Zuzana HRUBÁ, Eva STÁHLOVÁ HRABINCOVÁ, Slávka VRÁBELOVÁ, Felix VOTAVA, Stanislava KOLOUSKOVÁ and Lenka FAJKUSOVÁ. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. \textit{INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE}. UNITED STATES: SPANDIDOS PUBL LTD, 2010, vol.~26, No~4, p.~595-603. ISSN~1107-3756. Available from: https://dx.doi.org/10.3892/ijmm\_{}00000504.

Detailed Information on Publication Record