Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.

ABSTRACT:

Background and objectives

Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by locus and allelic heterogeneity, large multi-exon gene structure and duplication in PKD1, and a high level of unclassified variants. Comprehensive screening of PKD1 and PKD2 by two recent studies have shown that atypical splice mutations account for 3.5% to 5% of ADPKD. We evaluated the role of bioinformatic prediction of atypical splice mutations and determined the pathogenicity of an atypical PKD2 splice variant from a multiplex ADPKD (TOR101) family.

Design, setting, participants, & measurements

Using PubMed, we identified 17 atypical PKD1 and PKD2 splice mutations. We found that bioinformatics analysis was often useful for evaluating th

SUBMITTER: Wang K 

PROVIDER: S-EPMC2637591 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature