title: [Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease].
abstract: OBJECTIVE
  To identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD).
  
  
  METHODS
  The coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient.
  
  
  RESULTS
  A splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was detected in the PKD1 gene in all 5 patients from the pedigree but not in 6 phenotypically normal relatives and 40 healthy controls. Sequencing of RNA has confirmed that there were 8 bases inserted in the 3' end of exon 23 of the PKD1 gene.
  
  
  CONCLUSIONS
  The novel c.8791+1_8791+5delGTGCG mutation has created a new splice site and led to a frameshift, which probably underlies the ADPKD in the family. Above finding has enriched the mutation spectrum of the PKD1 gene.
authors.affiliation: Center for Reproductive Medicine, Shandong University; National Research Center for Assisted Reproductive Technology and Reproductive Genetics; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250001, China. gaoyuan@sduivf.com.
authors.forename: Peiwen
authors.initials: P
authors.lastname: Xu
authors.forename: Yang
authors.initials: Y
authors.lastname: Zou
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.forename: Sexin
authors.initials: S
authors.lastname: Huang
authors.forename: Ming
authors.initials: M
authors.lastname: Gao
authors.forename: Ranran
authors.initials: R
authors.lastname: Kang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Gao
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D050396:TRPP Cation Channels / Q000235:genetics*; D055815:Young Adult
chemical_list: D050396:TRPP Cation Channels