[Families with recurrent cases of Waardenburg-Klein syndrome]

Genetika. 1985 Jun;21(6):1062-5.
[Article in Russian]

Abstract

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.

Publication types

  • English Abstract

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child
  • Deafness / genetics*
  • Female
  • Gene Expression Regulation
  • Genes, Dominant
  • Genetic Variation
  • Humans
  • Klippel-Feil Syndrome / genetics*
  • Male
  • Pedigree
  • Phenotype
  • Syndrome