Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
Exp Clin Endocrinol Diabetes
; 120(1): 23-7, 2012 Jan.
Article
in En
| MEDLINE
| ID: mdl-22020670
ABSTRACT
Steroid 21-hydroxylase deficiency is caused by inactivating mutations in the CYP21A2 gene. This paper reports on the mutation spectrum and the genotype-phenotype correlation of 21-hydroxylase deficiency. 72 unrelated patients with congenital adrenal hyperplasia (CAH) were included. Molecular analysis of CYP21A2 was performed, via the multiplex ligation-dependent probe amplification (MLPA) analysis and sequence-specific differenzial PCR amplification of the CYP21A2 and CYP21A1P genes, using 4 pair-wise sequence-specific primers, followed by sequencing of the entire CYP21A2 gene. Large gene deletions were identified in 45 (31.3%) of the 144 unrelated CAH alleles, whereas the most frequent point mutations were intron 2 splice mutations (c.293-13A>G) (41/144, 28.5%). The MLPA analysis successfully identified 23 of 72 patients (31.9%) with single copy deletion in CYP21A2. This paper describes a rapid and accurate method for the molecular diagnosis of 21-hydroxylase deficiency, which relies on the identification of point mutations and structural rearrangements within the CYP21A2 gene.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Steroid 21-Hydroxylase
/
Point Mutation
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Gene Deletion
/
Adrenal Hyperplasia, Congenital
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Exp Clin Endocrinol Diabetes
Journal subject:
ENDOCRINOLOGIA
Year:
2012
Document type:
Article