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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todo:paper_10597794_v39_n1_p5_Simonetti2023-10-03T16:01:04Z CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants Simonetti, L. Bruque, C.D. Fernández, C.S. Benavides-Mori, B. Delea, M. Kolomenski, J.E. Espeche, L.D. Buzzalino, N.D. Nadra, A.D. Dain, L. 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. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar 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 |
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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 Simonetti, L. Bruque, C.D. Fernández, C.S. Benavides-Mori, B. Delea, M. Kolomenski, J.E. Espeche, L.D. Buzzalino, N.D. Nadra, A.D. Dain, L. 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. |
| format |
JOUR |
| author |
Simonetti, L. Bruque, C.D. Fernández, C.S. Benavides-Mori, B. Delea, M. Kolomenski, J.E. Espeche, L.D. Buzzalino, N.D. Nadra, A.D. Dain, L. |
| author_facet |
Simonetti, L. Bruque, C.D. Fernández, C.S. Benavides-Mori, B. Delea, M. Kolomenski, J.E. Espeche, L.D. Buzzalino, N.D. Nadra, A.D. Dain, L. |
| author_sort |
Simonetti, L. |
| 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 |
| url |
http://hdl.handle.net/20.500.12110/paper_10597794_v39_n1_p5_Simonetti |
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