Artículo

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" (2018) Human Mutation. 39(1):5-22
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Abstract:

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.

Registro:

Documento: Artículo
Título:CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
Autor: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.
Filiación:Centro Nacional de Genética Médica, ANLIS, Buenos Aires, Argentina
Instituto de Biología y Medicina Experimental, CONICET, Buenos Aires, Argentina
Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, IQUIBICEN-CONICET, Buenos Aires, Argentina
Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
Palabras clave: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
Año:2018
Volumen:39
Número:1
Página de inicio:5
Página de fin:22
DOI: http://dx.doi.org/10.1002/humu.23351
Título revista:Human Mutation
Título revista abreviado:Hum. Mutat.
ISSN:10597794
CODEN:HUMUE
CAS:steroid 21 monooxygenase, 9029-68-9; CYP21A2 protein, human; Steroid 21-Hydroxylase
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10597794_v39_n1_p5_Simonetti

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Citas:

---------- APA ----------
Simonetti, L., Bruque, C.D., Fernández, C.S., Benavides-Mori, B., Delea, M., Kolomenski, J.E., Espeche, L.D.,..., Dain, L. (2018) . CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants. Human Mutation, 39(1), 5-22.
http://dx.doi.org/10.1002/humu.23351
---------- CHICAGO ----------
Simonetti, L., Bruque, C.D., Fernández, C.S., Benavides-Mori, B., Delea, M., Kolomenski, J.E., et al. "CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants" . Human Mutation 39, no. 1 (2018) : 5-22.
http://dx.doi.org/10.1002/humu.23351
---------- MLA ----------
Simonetti, L., Bruque, C.D., Fernández, C.S., Benavides-Mori, B., Delea, M., Kolomenski, J.E., et al. "CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants" . Human Mutation, vol. 39, no. 1, 2018, pp. 5-22.
http://dx.doi.org/10.1002/humu.23351
---------- VANCOUVER ----------
Simonetti, L., Bruque, C.D., Fernández, C.S., Benavides-Mori, B., Delea, M., Kolomenski, J.E., et al. CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants. Hum. Mutat. 2018;39(1):5-22.
http://dx.doi.org/10.1002/humu.23351