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 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.
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, United Kingdom.
S M
SM
Walpole
N
N
Ronce
C
C
Grayson
B
B
Dessay
J R
JR
Yates
D
D
Trump
A
A
Toutain
D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics; D002874:Chromosome Mapping; D003315:Cornea / Q000002:abnormalities; D004247:DNA / Q000097:blood; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D036341:Intercellular Signaling Peptides and Proteins; D008214:Lymphocytes / Q000473:pathology; D051379:Mice; D008850:Microphthalmos / Q000235:genetics; D011401:Promoter Regions, Genetic; D011506:Proteins / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
D036341:Intercellular Signaling Peptides and Proteins; D011506:Proteins; C118924:RAI2 protein, human; D004247:DNA