CYP21A2 MUTATION UPDATE: COMPREHENSIVE ANALYSIS OF DATABASES AND PUBLISHED GENETIC VARIANTS

LEANDRO SIMONETTI , CARLOS DAVID BRUQUE , ALEJANDRO DANIEL NADRA, LILIANA DAÍN

Congreso; Reunión Conjunta de Sociedades de BioCiencias; 2017

Abstract: Congenital adrenal hyperplasia (CAH) is a group of au-tosomal recessive disorders of adrenal steroidogenesis. Disordersin steroid 21-hydroxylation account for over 95% of patients withCAH. Clinically, the 21-hydroxylase deficiency has been classified ina 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 arespread among different sources. Until recently, most variants report-ed have been identified in the clinical setting, which presumably biasdescribed variants to pathogenic ones, as those found in CYPAllelesdatabase. Nevertheless, a large amount of variants are being de-scribed in massive genome projects, as many found in dbSNP, but lack functional implications and/or its phenotypic effect.In this work we gathered a total of 1340 genetics variants in theCYP21A2 gene, from which 899 variants were unique and 230have an effect on human health, and compiled all this informationin an integrated database. We also connected CYP21A2 sequenceinformation to phenotypic effects for all available mutations. Datacompiled in the present work could help physicians in the geneticcounseling of families affected with 21-hydroxylase deficiency.