Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

doi:10.1038/ejhg.2013.197

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Article

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

European journal of human genetics : EJHG - 1 May 2014

Menabò Soara, Polat Seher, Baldazzi Lilia, Kulle Alexandra E, Holterhus Paul-Martin, Grötzinger Joachim, Fanelli Flaminia, Balsamo Antonio, Riepe Felix G

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine disease. Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common form of CAH. The aim of the study was to study the functional consequences of three novel and one previously described CYP11B1 gene mutations (p.(Arg143Trp), p.(Ala306Val), p.(Glu310Lys) and p.(Arg332Gln)) detected in patients...

Topics

Adolescent
Adrenal Cortex Hormones
Adrenal Hyperplasia, Congenital
Amino Acid Sequence
Cell Line
Child
DNA Mutational Analysis
Enzyme Activation
Female
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Kinetics

Male

Models, Molecular

Molecular Sequence Data

Mutation

Protein Conformation

Sequence Alignment

Source

Open in PubMed Open full text

Identifiers

PMID: 24022297
DOI: 10.1038/ejhg.2013.197
PMCID: PMC3992560

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-24022297-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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