Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.

ABSTRACT:

Background

Mutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts. However, the mutational spectrum of PKHD1 and the phenotype-genotype correlations have not yet been fully established.

Methods

Whole exome sequencing (WES) was performed on one twin sample with Caroli disease from a Chinese family from Shandong province. Routine Sanger sequencing was used to validate the WES and to carry out segregation studies. We also described the PKHD1 mutation associated with the genotype-phenotype of this twin.

Results

A combination of WES and Sanger sequencing revealed the genetic defect to be a novel compound heterozygous genotype in PKHD1, including the missense mutation c.2507

SUBMITTER: Hao X 

PROVIDER: S-EPMC3977808 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature