TY - JOUR
T1 - A novel G472R mutation in is Turkish family with X-linked Alport syndrome
AU - Topaloglu, R
AU - Plant, K E
AU - Flinter, F
PY - 2000/6
Y1 - 2000/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0034105177&partnerID=8YFLogxK
U2 - 10.1007/s004670050797
DO - 10.1007/s004670050797
M3 - Article
VL - 14
SP - 480
EP - 481
JO - Pediatric Nephrology
JF - Pediatric Nephrology
IS - 6
ER -