Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
Congenital nephrotic syndrome is defined as nephrotic syndrome which manifests in utero or during the first 3 months of life. The prototype of congenital nephrotic syndrome is congenital nephrotic syndrome of Finnish type (CNF, OMIM #602716), which is caused by loss-of-function mutations of the nephrin gene (NPHS1). There have been few clinical case reports of CNF in Korea, but none of which was confirmed by genetic study. Here, we report two children with congenital nephrotic syndrome. Genetic analysis of the NPHS1 gene revealed compound heterozygous frame-shifting mutations (c.2156_2163 delTGCACTGC causing p.L719DfsX4 and c.3250_3251insG causing p.V1084GfsX12) in one patient and a missense mutation (c.1381G>A causing p.R460Q) and a nonsense mutation (c.2442C>G causing p.Y814X) in the other patient. The nonsense mutation was novel. The clinical courses of the patients were typical of CNF. This is the first report of genetically confirmed CNF in Korea to date. The early genetic diagnosis of CNF is important for proper clinical management of the patients and precise genetic counseling of the families.
Lee
Beom Hee
BH
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Ahn
Yo Han
YH
Choi
Hyun Jin
HJ
Kang
Hee Kyung
HK
Kim
Sung-Do
SD
Cho
Byoung-Soo
BS
Moon
Kyung Chul
KC
Ha
Il Soo
IS
Cheong
Hae Il
HI
Choi
Yong
Y
D001483:Base Sequence; D001706:Biopsy; D018389:Codon, Nonsense; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007723:Korea; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008854:Microscopy, Electron / Q000379:methods; D008969:Molecular Sequence Data; D009154:Mutation; D009404:Nephrotic Syndrome / Q000175:diagnosis* / Q000235:genetics*
D018389:Codon, Nonsense; D008565:Membrane Proteins; C113267:nephrin