Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.1, ss.42-45, 2003 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: Sayı: 1
- Basım Tarihi: 2003
- Doi Numarası: 10.1002/ajmg.a.20260
- Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.42-45
- İstanbul Üniversitesi Adresli: Evet
Özet
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.