Mutations in DSTYK and dominant urinary tract malformations.

ABSTRACT:

Background

Congenital abnormalities of the kidney and the urinary tract are the most common cause of pediatric kidney failure. These disorders are highly heterogeneous, and the etiologic factors are poorly understood.

Methods

We performed genomewide linkage analysis and whole-exome sequencing in a family with an autosomal dominant form of congenital abnormalities of the kidney or urinary tract (seven affected family members). We also performed a sequence analysis in 311 unrelated patients, as well as histologic and functional studies.

Results

Linkage analysis identified five regions of the genome that were shared among all affected family members. Exome sequencing identified a single, rare, deleterious variant within these linkage intervals, a heterozygous splice-site

SUBMITTER: Sanna-Cherchi S 

PROVIDER: S-EPMC3846391 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature