Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, dysmorphic facial features, and developmental delay in some cases. Recent linkage studies have mapped the NHS disease gene to a 3.5-cM interval on...

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Bibliographic Details
Published in:	Human genetics 1999-05, Vol.104 (5), p.410-411
Main Authors:	WALPOLE, S. M, RONCE, N, GRAYSON, C, DESSAY, B, YATES, J. R. W, TRUMP, D, TOUTAIN, A
Format:	Article
Language:	eng
Subjects:	Abnormalities, Multiple - genetics Animals Base Sequence Biological and medical sciences Cataract - congenital Cataract - genetics Chromosome Mapping Complex syndromes Cornea - abnormalities DNA - blood Face - abnormalities Humans Intellectual Disability - genetics Lymphocytes - pathology Medical genetics Medical sciences Mice Microphthalmos - genetics Promoter Regions, Genetic Proteins - genetics Syndrome X Chromosome
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Summary:	Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, dysmorphic facial features, and developmental delay in some cases. Recent linkage studies have mapped the NHS disease gene to a 3.5-cM interval on Xp22.2 between DXS1053 and DXS443. We previously identified a human homologue of a mouse retinoic-acid-induced gene (RAI2) within the NHS critical flanking interval and have tested the gene as a candidate for Nance-Horan syndrome in nine NHS-affected families. Direct sequencing of the RAI2 gene and predicted promoter region has revealed no mutations in the families screened; RAI2 is therefore unlikely to be associated with NHS.
ISSN:	0340-6717 1432-1203