CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging f...

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Publicado:	2018
Materias:	21-hydroxylase deficiency congenital adrenal hyperplasia CYP21A2 genetic variants genotype–phenotype correlation Article CYP21A2 gene gene gene mutation gene sequence genetic database genetic variability genotype phenotype correlation human mutant priority journal allele genetic association study genetic variation genetics genotype mutation phenotype CYP21A2 protein, human steroid 21 monooxygenase Adrenal Hyperplasia, Congenital Alleles Databases, Genetic Genetic Association Studies Genetic Variation Genotype Humans Mutation Phenotype Steroid 21-Hydroxylase
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10597794_v39_n1_p5_Simonetti http://hdl.handle.net/20.500.12110/paper_10597794_v39_n1_p5_Simonetti
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_10597794_v39_n1_p5_Simonetti
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spelling	paper:paper_10597794_v39_n1_p5_Simonetti2023-06-08T16:03:25Z CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants 21-hydroxylase deficiency congenital adrenal hyperplasia CYP21A2 genetic variants genotype–phenotype correlation Article CYP21A2 gene gene gene mutation gene sequence genetic database genetic variability genotype phenotype correlation human mutant priority journal allele congenital adrenal hyperplasia genetic association study genetic variation genetics genotype mutation phenotype CYP21A2 protein, human steroid 21 monooxygenase Adrenal Hyperplasia, Congenital Alleles Databases, Genetic Genetic Association Studies Genetic Variation Genotype Humans Mutation Phenotype Steroid 21-Hydroxylase Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non-classical. Known allelic variants in the disease causing CYP21A2 gene are spread among different sources. Until recently, most variants reported have been identified in the clinical setting, which presumably bias described variants to pathogenic ones, as those found in the CYPAlleles database. Nevertheless, a large number of variants are being described in massive genome projects, many of which are found in dbSNP, but lack functional implications and/or their phenotypic effect. In this work, we gathered a total of 1,340 GVs in the CYP21A2 gene, from which 899 variants were unique and 230 have an effect on human health, and compiled all this information in an integrated database. We also connected CYP21A2 sequence information to phenotypic effects for all available mutations, including double mutants in cis. Data compiled in the present work could help physicians in the genetic counseling of families affected with 21-hydroxylase deficiency. © 2017 Wiley Periodicals, Inc. 2018 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10597794_v39_n1_p5_Simonetti http://hdl.handle.net/20.500.12110/paper_10597794_v39_n1_p5_Simonetti
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	21-hydroxylase deficiency congenital adrenal hyperplasia CYP21A2 genetic variants genotype–phenotype correlation Article CYP21A2 gene gene gene mutation gene sequence genetic database genetic variability genotype phenotype correlation human mutant priority journal allele congenital adrenal hyperplasia genetic association study genetic variation genetics genotype mutation phenotype CYP21A2 protein, human steroid 21 monooxygenase Adrenal Hyperplasia, Congenital Alleles Databases, Genetic Genetic Association Studies Genetic Variation Genotype Humans Mutation Phenotype Steroid 21-Hydroxylase
spellingShingle	21-hydroxylase deficiency congenital adrenal hyperplasia CYP21A2 genetic variants genotype–phenotype correlation Article CYP21A2 gene gene gene mutation gene sequence genetic database genetic variability genotype phenotype correlation human mutant priority journal allele congenital adrenal hyperplasia genetic association study genetic variation genetics genotype mutation phenotype CYP21A2 protein, human steroid 21 monooxygenase Adrenal Hyperplasia, Congenital Alleles Databases, Genetic Genetic Association Studies Genetic Variation Genotype Humans Mutation Phenotype Steroid 21-Hydroxylase CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
topic_facet	21-hydroxylase deficiency congenital adrenal hyperplasia CYP21A2 genetic variants genotype–phenotype correlation Article CYP21A2 gene gene gene mutation gene sequence genetic database genetic variability genotype phenotype correlation human mutant priority journal allele congenital adrenal hyperplasia genetic association study genetic variation genetics genotype mutation phenotype CYP21A2 protein, human steroid 21 monooxygenase Adrenal Hyperplasia, Congenital Alleles Databases, Genetic Genetic Association Studies Genetic Variation Genotype Humans Mutation Phenotype Steroid 21-Hydroxylase
description	Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non-classical. Known allelic variants in the disease causing CYP21A2 gene are spread among different sources. Until recently, most variants reported have been identified in the clinical setting, which presumably bias described variants to pathogenic ones, as those found in the CYPAlleles database. Nevertheless, a large number of variants are being described in massive genome projects, many of which are found in dbSNP, but lack functional implications and/or their phenotypic effect. In this work, we gathered a total of 1,340 GVs in the CYP21A2 gene, from which 899 variants were unique and 230 have an effect on human health, and compiled all this information in an integrated database. We also connected CYP21A2 sequence information to phenotypic effects for all available mutations, including double mutants in cis. Data compiled in the present work could help physicians in the genetic counseling of families affected with 21-hydroxylase deficiency. © 2017 Wiley Periodicals, Inc.
title	CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
title_short	CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
title_full	CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
title_fullStr	CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
title_full_unstemmed	CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
title_sort	cyp21a2 mutation update: comprehensive analysis of databases and published genetic variants
publishDate	2018
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10597794_v39_n1_p5_Simonetti http://hdl.handle.net/20.500.12110/paper_10597794_v39_n1_p5_Simonetti
_version_	1768546312917090304

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

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