Research Project
Grant-in-Aid for Scientific Research (C)
Podocin is an integral membrane protein encodedby NPHS2, which is mapped to 1q25-31 and exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for autosomal recessive familial steroid-resistant nephrotic syndrome (SRNS). It has been demonstrated that sporadic SRNS and steroid-sensitive nephrotic syndrome. We isolated genomic DNA from 26 Japanese children with steroid-resistant nephrotic syndrome and 45 Japanese children with steroid-sensitive nephrotic syndrome. We analyzed all eight exons of NPHS2 using the polymerase chain reaction and direct sequencing. Four silent variants (102G>A, 288C>T, 954T>C, 1038A>G) were identified in some of the patients and normal controls, indicating that the silent variants are polymorphisms. There was nosignificant difference in the genotypic and allelic frequencies of these 4 polymorphisms between the patients and normal controls and between the steroid-resistant and steroid-sensitive patients. In conclusion, NPHS2 gene mutations are not a major cause of nephrotic syndrome in Japanese children.
All 2008 2007 2006 Other
All Journal Article (29 results) (of which Peer Reviewed: 16 results) Book (1 results)
J Med Genetics 45
Pages: 182-186
Pediatr Nephrol 23
Pages: 905-912
Pages: 757-763
Kidney Int 73
Pages: 1167-1173
Pediatr Int 49
Pages: 196-201
Pediatr Research 62
Pages: 1-6
Pediatr Nephrol 22
Pages: 1957-1961
Kidney Int 72
Pages: 1429-1447
10025701181
Pediatr Nephrol 21
Pages: 194-200
Pediatrics International 48
Pages: 152-157
Clin J Am Soc Nephrol 1
Pages: 511-517
Pages: 723-729
Pages: 1824-1829
Pediatr Nephrol (In Press)
Kidney Int (In Press)
Pediatr Nephrol (in press)
Kidney Int (In press)
