title: [Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].
abstract: OBJECTIVE
  To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD).
  
  
  METHODS
  Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software.
  
  
  RESULTS
  Compound heterozygous mutations of c.11314C>T (p.Arg3772*) and a novel missense c.889T>A (p.Cys297Ser) of the PKHD1 gene were identified in the fetus. The mother was found to have carried the c.11314C>T mutation, while the father was found to have carried the c.889T>A mutation. PolyPhen-2 and SIFT predicted that the c.889T>A mutation is probably damaging.
  
  
  CONCLUSIONS
  A novel mutation in PKHD1 gene was detected in our ARPKD family. Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis for the fetus affected with ARPKD, which has facilitated genetic counseling and implement of prenatal diagnosis for the family.
authors: Central Laboratory, Department of Ultrasonography, The Central Hospital of Wenzhou, Wenzhou, Zhejiang 325000, China. Email: 18758740788@163.com.
authors: Yanbao
authors: Y
authors: Xiang
authors: Huanzheng
authors: H
authors: Li
authors: Chenyang
authors: C
authors: Xu
authors: Xueqin
authors: X
authors: Dong
authors: Xueqin
authors: X
authors: Xu
authors: Chong
authors: C
authors: Chen
authors: Shaohua
authors: S
authors: Tang
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D005333:Fetus / Q000002:abnormalities / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation; D017044:Polycystic Kidney, Autosomal Recessive / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D011247:Pregnancy; D011956:Receptors, Cell Surface / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D016216:Ultrasonography, Prenatal / Q000379:methods
chemical_list: C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface