Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.
Keipert syndrome is a rare condition comprising sensorineural deafness associated with facial and digital abnormalities. To date, Keipert syndrome has been reported in six male patients including two sib pairs; however the genetic basis of Keipert syndrome is yet to be elucidated. We report on the diagnosis of Keipert syndrome in the nephew of the brothers in the first report of Keipert syndrome, with a pedigree consistent with X-linked recessive inheritance. Linkage analysis using microsatellite markers along the X-chromosome suggests that the gene for Keipert syndrome is located in the region Xq22.2-Xq28. We postulate the Keipert syndrome is caused by a novel gene at Xq22.2-Xq28.
Amor
David J
DJ
Murdoch Childrens Research Institute, Flemington Rd, Parkville, Victoria, Australia. david.amor@mcri.edu.au
Dahl
Hans-Henrik M
HH
Bahlo
Melanie
M
Bankier
Agnes
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D003638:Deafness / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities