[Families with recurrent cases of Waardenburg-Klein syndrome].
Deaf children with the type I Waardenburg--Klein syndrome were studied. Secondary cases were found in 14 unrelated and 1 incest families. In 10 families probands and all their affected relatives had the type I Waardenburg--Klein syndrome. In 4 families patients were discovered with both type I and type II syndromes. In an incest family the proband seemed to have the type III, while his mother and father (sibs) had type II and their grandmother the type I syndrome. These results contradict the hypothesis claiming the origin of different types of Waardenburg--Klein syndrome to be due to the action of different genes. It is proposed that types I and II, or all types of the syndrome are caused by a single dominant gene. Potential mechanisms for clinical polymorphism of Waardenburg--Klein syndrome are related to incomplete penetrance and varying expression of this gene.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D003638:Deafness / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
Sem'i s povtornymi sluchaiami sindroma Vardenburga-Kleĭna.