Mutations in NPHS1 in a  Chinese child with congenital nephrotic syndrome.
Since  the identification of the NPHS1 gene, which encodes nephrin, various  investigators have demonstrated that the NPHS1 mutation is a frequent  cause of congenital nephrotic syndrome (CNS); it is found in 98% of Finnish  children with this syndrome and in 39-80% of non-Finnish cases. In China,  compound heterozygous mutations in the NPHS1 gene have been identified  in two Chinese families with CNS. To our knowledge, however, whether or not NPHS1 is the causative gene in sporadic Chinese CNS cases has not been  established. We identified a homozygous mutation of NPHS1, 3250insG  (V1084fsX1095), in a Chinese child with sporadic CNS. This finding leads us to  suggest that NPHS1 mutations are also present in sporadic Chinese CNS  cases. This gives additional support for the necessity for genetic examination  of mutations in the NPHS1 gene in Chinese children with sporadic CNS.
Department of Pediatrics, Fuzhou Dongfang Hospital, Fuzhou, Fujian, PR China. zihuayu@vip.sina.com
Z H
ZH
Yu
D J
DJ
Wang
D C
DC
Meng
J
J
Huang
X J
XJ
Nie
D044466:Asian People / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics*
D008565:Membrane Proteins; C113267:nephrin