A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria.
The authors reported a 14-year-old boy who presented with multiple organs thrombosis and subluxation of lens. His diagnosis of homocystinuria was delayed owing to the unrecognition of the disease resulting in significant morbidity. The mutation analysis showed one novel mutation that can explain the high level of plasma homocysteine.
Sirachainan
Nongnuch
N
Department of Pediatrics, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. rasrb@mahidol.ac.th
Wattanasirichaigoon
Duangrurdee
D
Suwannarat
Pim
P
Sasanakul
Werasak
W
Chuansumrit
Ampaiwan
A
D000293:Adolescent; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004252:DNA Mutational Analysis; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D013785:Thailand; D013927:Thrombosis / Q000209:etiology
D003541:Cystathionine beta-Synthase