Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.

BMC endocrine disorders - 17 Jun 2016

Charnwichai Pattaranatcha, Yeetong Patra, Suphapeetiporn Kanya, Supornsilchai Vichit, Sahakitrungruang Taninee, Shotelersuk Vorasuk

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency (11β-OHD) is a rare form of CAH associated with low renin hypertension, hypokalemia, hyperandrogenemia and ambiguous genitalia in affected females. Herein we describe the clinical, hormonal and molecular characteristics of two Uzbekistan siblings with 11β-OHD and analyze the effects of a splicing mutation. CASE...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hyperplasia, Congenital
Share to Alternative Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to DNA Mutational Analysis

Share to Genetic Carrier Screening

Share to Infant

Share to RNA Splice Sites

Share to Steroid 11-beta-Hydroxylase

Source

Open in PubMed Open full text

Identifiers

PMID: 27316665
DOI: 10.1186/s12902-016-0118-6
PMCID: PMC4912772

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.PMID 27316665Read ↗

Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH).Semantic proximity Read ↗

Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.Semantic proximity Read ↗

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency.Semantic proximity Read ↗

A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.Semantic proximity Read ↗

Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.Semantic proximity Read ↗

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.Semantic proximity Read ↗

Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient.Semantic proximity Read ↗

Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.Semantic proximity Read ↗

Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.Semantic proximity Read ↗

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.Semantic proximity Read ↗

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.Semantic proximity Read ↗

Pregnancy in a Chinese woman with nonclassical 11β-hydroxylase deficiency caused by novel compound heterozygous mutations: a case report, literature review and functional validationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.