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Article

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.

Metabolism: clinical and experimental - 1 Apr 2012

Concolino Paola, Mello Enrica, Patrosso Maria Cristina, Penco Silvana, Zuppi Cecilia, Capoluongo Ettore

Abstract excerpt

More than 90% of all cases of congenital adrenal hyperplasia (CAH) result from steroid 21-hydroxylase gene (CYP21A2) mutations. The CYP21A2 gene is located in the human leukocyte antigen (HLA) class III region on the short arm of chromosome 6p21.3, along with an inactive pseudogene, CYP21A1P, that is 98% homologous in its coding sequence with CYP21A2. Most CYP21A2 mutations result from intergenic recombinations...

Topics

Adrenal Hyperplasia, Congenital
Adult
Animals
Blotting, Western
COS Cells
Chlorocebus aethiops
DNA
Female
Genetic Variation
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutagenesis, Site-Directed

Mutation, Missense

Steroid 21-Hydroxylase

Transfection

Source

Identifiers

PMID: 22014889
DOI: 10.1016/j.metabol.2011.08.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-22014889-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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