Only two mutations detected in 15 Tunisian patients with 11ß-hydroxylase deficiency: the p.Q356X and the novel p.G379V.
Clin Genet
; 78(4): 398-401, 2010 Oct.
Article
in En
| MEDLINE
| ID: mdl-20331679
ABSTRACT
Steroid 11ß-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia, resulting in virilization, glucocorticoid deficiency and hypertension. The 11ß-hydroxylase enzyme is encoded by the CYP11B1 gene and mutations in this gene are responsible for this disease. The aim of this study was to characterize mutations in the CYP11B1 gene and to determine their frequencies in a cohort of Tunisian patients. The molecular genetic analysis was performed by direct nucleotide sequencing of the CYP11B1 gene in 15 unrelated Tunisian patients suffering from classical 11ß-hydroxylase deficiency. Only two mutations were detected in homozygous state in the CYP11B1 gene of all patients, the p.Q356X in exon 6 (26.6%) and the novel p.G379V in exon 7 with large prevalence (73.3%). This is the first report of screening for mutations of CYP11B1 gene in the Tunisian population and even in the Arab population.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA Mutational Analysis
/
Steroid 11-beta-Hydroxylase
/
Mutation
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Africa
Language:
En
Journal:
Clin Genet
Year:
2010
Type:
Article
Affiliation country:
Tunisia