First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.
Clin Biochem
; 40(18): 1435-6, 2007 Dec.
Article
em En
| MEDLINE
| ID: mdl-18028896
ABSTRACT
OBJECTIVES:
To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene. DESIGN ANDMETHODS:
Direct genetic sequencing of CYP21A2 gene was performed.RESULTS:
Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively.CONCLUSIONS:
V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Esteroide 21-Hidroxilase
/
Hiperplasia Suprarrenal Congênita
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Clin Biochem
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Itália