Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease.
- Author:
Peiwen XU
1
,
2
,
3
;
Yang ZOU
;
Jie LI
;
Sexin HUANG
;
Ming GAO
;
Ranran KANG
;
Yuan GAO
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Female; Humans; Male; Mutation; genetics; Pedigree; Polycystic Kidney, Autosomal Dominant; genetics; RNA Splicing; genetics; TRPP Cation Channels; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2016;33(6):778-781
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD).
METHODSThe 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.
RESULTSA 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.
CONCLUSIONThe 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.
