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|Type:||Artigo de periódico|
|Title:||Cyp11b1 Intragenic Polymorphisms Give Evidence For A Different Q356x Allele In An African-brazilian Patient|
|Author:||De Carvalho C.E.|
De Mello M.P.
|Abstract:||The adrenal cortex is responsible for the production of more than 50 different cholesterol-derived steroids. For such complex metabolism, an arsenal of functional enzymes is necessary. Deficiency of the 11β- hydroxylase enzyme (11β-OH) results in the interruption of the last step of cortisol production. It represents the second most frequent cause of congenital adrenal hyperplasia (CAH). Mutations in the 11βOH coding gene (CYP11B1) have been described as the main cause of the 11β-OH deficiency. We describe here a nonsense mutation on the CYP11B1 gene in a patient with 11βOH deficiency presenting with ambiguous genitalia at birth and premature pubarche, clitoris enlargement, hypertension and high 11-deoxycortisol levels at the chronological age of 2 yr. This patient is the daughter of a consanguineous couple of African descent. Sequencing data indicated a homozygous mutation (Q356X) in the 11β-OH coding gene. Although the same mutation has been described before in two non-related patients of African- American origin, the investigation of intragenic polymorphisms raises the possibility of a different allele in the African-Brazilian patient. In addition, this is the first mutation determined in a patient with 11β-OH deficiency in Brazil.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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