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Hosomi, N. et al.

Hosomi, Oiso, Fukai, Hanada, Fujita, Ishii,

Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation.

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.[1]

References

Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. Hosomi, N., Oiso, N., Fukai, K., Hanada, K., Fujita, H., Ishii, M. J. Dermatol. Sci. (2007) [Pubmed]

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