Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
2003 | journal article; research paper. A publication with affiliation to the University of Göttingen.
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Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
Wollnik, B. ; Tukel, T.; Uyguner, O.; Ghanem, A.; Kayserili, H.; Emiroglu, M. U. & Yüksel Apak, M. (2003)
American Journal of Medical Genetics, 122A(1) pp. 42-45. DOI: https://doi.org/10.1002/ajmg.a.20260
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- Authors
- Wollnik, Bernd ; Tukel, T.; Uyguner, Oya; Ghanem, Alexander; Kayserili, Hülya; Emiroglu, Melike Ulubil; Yüksel Apak, Memnune
- Abstract
- Type I Waardenburg syndrome (WS-I) is an auditory-pigmentary syndrome caused by heterozygous loss of function mutations in the PAX3 gene. Klein-Waardenburg syndrome (WS-III) is a very rare condition and represents an extreme presentation of WS-I, additionally associated with musculoskeletal abnormalities. We present an 18-months old Turkish child with typical Klein-Waardenburg syndrome (WS) including dystopia canthorum, partial albinism, and upper-limb defects. The child was born to a consanguineous couple and both parents had WS-I. We screened the entire coding region of the PAX3 gene for mutations and identified a novel missense mutation, Y90H, within the paired box domain of PAX3. Both parents were heterozygous for the mutation and the proposita was homozygous. This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype. Molecular analysis of four additional Turkish families with variable clinical expression of WS-I identified two missense mutations, one splice-site mutation, and one small insertion in the PAX3 gene. (C) 2003 Wiley-Liss, Inc.
- Issue Date
- 2003
- Publisher
- Wiley-liss
- Journal
- American Journal of Medical Genetics
- ISSN
- 0148-7299