A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.

ABSTRACT: Expanded mutation detection and novel gene discovery for isolated polycystic liver disease (PCLD) are necessary as 50% of cases do not have identified mutations in the seven published disease genes. We investigated a family with five affected siblings for which no loss-of-function variants were identified by whole exome sequencing analysis. SNP genotyping and linkage analysis narrowed the candidate regions to ∼8% of the genome, which included two published PCLD genes in close proximity to each other, GANAB and LRP5. Based on these findings, we re-evaluated the exome sequencing data and identified a novel intronic nine base pair deletion in the vicinity of the GANAB exon 24 splice donor that had initially been discarded by the sequence analysis pipelines. We used a minigene assay to show th

SUBMITTER: Besse W 

PROVIDER: S-EPMC5805583 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature