Article
Molecular analysis of the CYP21A2 gene in dried blood spot samples.
Medicina - 1 Jan 2020
Marino Silvia, Perez Garrido Natalia, Ramírez Pablo, Pujana Matías, Dratler Gustavo, Belgorosky Alicia, Marino Roxana
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder due to a deficiency of enzymes involved in cortisol biosynthesis. In more than 90% of cases, CAH is secondary to deleterious mutations in the CYP21A2 gene leading to 21-hydroxilase deficiency (21OHD). The CYP21A2 gene is located on the short arm of chromosome 6 (6p21·3) and encodes the cytochrome P450C21 enzyme. Neonatal screening programs...
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