title: High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.
abstract: OBJECTIVE
  The present study was designed to explore mutations of NPHP2 and NPHP3 and clinical features in 18 Chinese infantile nephronophthisis (NPHP) patients.
  
  
  METHODS
  Patients were subjected to screen for mutations in both NPHP2 and NPHP3, and clinical data were collected.
  
  
  RESULTS
  Eighteen patients from 17 families were included in this study. Eight of 17 (47.1%) patients detected were identified to have mutations in NPHP3, but none had a mutation in NPHP2. Of the patients with NPHP3 mutations, four had compound heterozygous mutations, and the other four harboured single heterozygous mutations. Ten of the NPHP3 mutations were novel. Low molecular weight proteinuria was observed in all 16 detected patients. Renal histology were available in seven children, five patients showed infantile type NPHP features, and the other two patients from the same family showed juvenile type NPHP features. Liver involvement was observed in all patients with NPHP3 mutations and congenital heart disease in two patients harbouring NPHP3 mutation of c.2369 T > C (p.L790P).
  
  
  CONCLUSIONS
  In this group of infantile NPHP patients, mutations of NPHP3 were prevalent, whereas mutation of NPHP2 was absent. Genotype to phenotype correlations were observed in patients with NPHP3 mutations and all patients with NPHP3 mutations showed renal-hepatic phenotype.
authors.affiliation: Department of Pediatrics, Children's Kidney Diseases Center, Sun Yat-sen University, Guangzhou, China.
authors.forename: Liangzhong
authors.initials: L
authors.lastname: Sun
authors.affiliation: Department of Pediatrics, Children's Kidney Diseases Center, Sun Yat-sen University, Guangzhou, China.|Department of Organ Transplantation, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
authors.forename: Huajuan
authors.initials: H
authors.lastname: Tong
authors.affiliation: Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
authors.forename: Haiyan
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Children's Kidney Diseases Center, Sun Yat-sen University, Guangzhou, China.
authors.forename: Zhihui
authors.initials: Z
authors.lastname: Yue
authors.affiliation: Department of Pediatrics, Children's Kidney Diseases Center, Sun Yat-sen University, Guangzhou, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Liu
authors.affiliation: Department of Pediatrics, Children's Kidney Diseases Center, Sun Yat-sen University, Guangzhou, China.
authors.forename: Hongrong
authors.initials: H
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, PLA, Fuzhou General Hospital of Nanjing Command, Fuzhou, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Pediatrics, PLA, Fuzhou General Hospital of Nanjing Command, Fuzhou, China.
authors.forename: Changxi
authors.initials: C
authors.lastname: Wang
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D016547:Kinesins / Q000235:genetics*; D008107:Liver Diseases / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011507:Proteinuria / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics
chemical_list: D005819:Genetic Markers; C114503:INVS protein, human; D014157:Transcription Factors; C528697:nephrocystin-3, human; D016547:Kinesins
keywords: NPHP2; NPHP3; infantile nephronophthisis