title: Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
abstract: 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.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Beom Hee
authors.initials: BH
authors.lastname: Lee
authors.forename: Yo Han
authors.initials: YH
authors.lastname: Ahn
authors.forename: Hyun Jin
authors.initials: HJ
authors.lastname: Choi
authors.forename: Hee Kyung
authors.initials: HK
authors.lastname: Kang
authors.forename: Sung-Do
authors.initials: SD
authors.lastname: Kim
authors.forename: Byoung-Soo
authors.initials: BS
authors.lastname: Cho
authors.forename: Kyung Chul
authors.initials: KC
authors.lastname: Moon
authors.forename: Il Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
authors.forename: Yong
authors.initials: Y
authors.lastname: Choi
mesh_terms: 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*
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; C113267:nephrin