Waardenburg syndrome type 3 (Klein - Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: A simple variant or a true sydrome?

M. Tekin, J. N. Bodurtha, W. E. Nance, A. Pandya

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). Since the description of the first patient in 1947 (D. Klein, Arch Klaus Stift Vererb Forsch 1947: 22: 336-342), a few cases have been reported. Only occasional families have demonstrated autosomal-dominant inheritance of WS-III. In a previous report, a missense mutation in the paired domain of the PAX3 gene has been described in a family with dominant segregation of WS-III. In this report, we present a second family (mother and son) with typical clinical findings of WS-III segregating with a heterozygous 13-bp deletion in the paired domain of the PAX3 gene. Although homozygosity or compound heterozygosity has also been documented in patients with severe limb involvement, a consistent genotype - phenotype correlation for limb abnormalities associated with heterozygous PAX3 mutations has not previously been apparent. Heterozygous mutations could either reflect a unique dominant-negative effect or possibly the contribution of other unlinked genetic modifiers in determining the phenotype.

Original languageEnglish (US)
Pages (from-to)301-304
Number of pages4
JournalClinical Genetics
Volume60
Issue number4
DOIs
StatePublished - Nov 12 2001
Externally publishedYes

Keywords

  • Deafness
  • Klein
  • Limb abnormalities
  • PAX3 gene
  • Waardenburg syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Waardenburg syndrome type 3 (Klein - Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: A simple variant or a true sydrome?'. Together they form a unique fingerprint.

  • Cite this