Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation.
J Dermatol Sci
; 45(1): 31-6, 2007 Jan.
Article
em En
| MEDLINE
| ID: mdl-17113756
BACKGROUND: X-linked ichthyosis (XLI) is caused by deficiency of steroid sulfatase (STS) activity. About 90% XLI patients have large deletions involving the entire STS gene and flanking regions. Recently, VCXA, which is located approximately 0.7Mb telomeric to the STS gene, was reported as a candidate gene for mental retardation (MR) in patients with XLI. OBJECTIVE: To delineate the X-chromosomal deletion of a XLI patient with borderline mental retardation. METHODS: We carried out FISH analysis to show that the whole STS gene is deleted, and PCR analysis for fine-scale deletion mapping. RESULTS: The deleted segment is approximately 1.6Mb in size, and includes the entire STS and VCXB1 genes. VCXA itself is intact, but its promoter is deleted. CONCLUSION: A deletion that includes the VCXA promoter is associated with borderline mental retardation in a patient with XLI.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
/
Ictiose Ligada ao Cromossomo X
/
Regiões Promotoras Genéticas
/
Deleção de Genes
/
Deficiência Intelectual
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article