A novel G472R mutation in is Turkish family with X-linked Alport syndrome
PEDIATRIC NEPHROLOGY, cilt.14, sa.6, ss.480-481, 2000 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 14 Sayı: 6
- Basım Tarihi: 2000
- Doi Numarası: 10.1007/s004670050797
- Dergi Adı: PEDIATRIC NEPHROLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.480-481
- Hacettepe Üniversitesi Adresli: Hayır
Özet
Alport syndrome (AS) is a hereditary disorder of progressive nephritis. Most cases are X-Linked, but autosomal forms have been reported. The X-linked form is associated with mutations in the COL4A5 gene that encodes the alpha 5 chain of type TV collagen. More than 200 mutations have been reported in X-linked AS. We report a novel 1616 G>A mutation resulting in glycine substitution to arginine at position 472 in a Turkish family with a severely affected man and several variably affected women. This is the first Turkish family in whom the molecular basis of the disease has been reported.