Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.

Shaily SarafPriyanka SrivastavaInusha PanigrahiVenu SeenappaRakesh KumarJaivinder YadavRoshan DanielDevi Dayal

Published in: Indian journal of pediatrics (2022)

All children, except two, diagnosed clinically as classic CAH, showed pathogenic variants in the CYP21A2 gene; the most common variant was c.293-13 C/A>G. The results suggest a broad mutation spectrum in the authors' single-center cohort of children with CAH. Clinical exome sequencing is the preferred stand-alone method for molecular diagnosis of CAH.

Keyphrases

young adults
copy number
genome wide
gene expression
single cell
transcription factor
single molecule