title: A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.
abstract: We report in this paper two siblings aged 8 and 17 months who were clinically diagnosed with familial steroid-resistant nephrotic syndrome (SRNS). By mutation screening of the NPHS2 gene, a homozygous missense mutation, P118L, was detected in both children. This study is the first systematic investigation of NPHS2 gene mutations in Turkish children with familial SRNS. If this mutation is a hot spot of mutation in the Turkish population, screening this novel mutation in Turkish children with SRNS may be of great clinical use to prevent unnecessary treatment modalities, provide accurate genetic counselling and predict the prognosis of the disease.
authors.affiliation: Sosyal Sigortalar Kurumu Tepecik Teaching Hospital, Clinics of Pediatrics, Yenisehir Izmir, Turkey. eozer@deu.edu.tr
authors.forename: Esra Arun
authors.initials: EA
authors.lastname: Ozer
authors.forename: Nejat
authors.initials: N
authors.lastname: Aksu
authors.forename: Hakan
authors.initials: H
authors.lastname: Erdogan
authors.forename: Onder
authors.initials: O
authors.lastname: Yavascan
authors.forename: Orhan
authors.initials: O
authors.lastname: Kara
authors.forename: Olivier
authors.initials: O
authors.lastname: Gribouval
authors.forename: Marie-Claire
authors.initials: MC
authors.lastname: Gubler
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
mesh_terms: D004351:Drug Resistance; D005260:Female; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000188:drug therapy / Q000235:genetics*; D013256:Steroids / Q000627:therapeutic use; D014421:Turkey
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D013256:Steroids