Genetic basis of prune belly syndrome: screening for HNF1β gene.

ABSTRACT:

Purpose

Although the cause of prune belly syndrome is unknown, familial evidence suggests a genetic component. Recently 2 nonfamilial cases of prune belly syndrome with chromosome 17q12 deletions encompassing the HNF1β gene have made this a candidate gene for prune belly syndrome. To date, there has been no large-scale screening of patients with prune belly syndrome for HNF1β mutations. We assessed the role of HNF1β in prune belly syndrome by screening for genomic mutations with functional characterization of any detected mutations.

Materials and methods

We studied patients with prune belly syndrome who were prospectively enrolled in our Pediatric Genitourinary DNA Repository since 2001. DNA from patient samples was amplified by polymerase chain reaction, sequenced for codin

SUBMITTER: Granberg CF 

PROVIDER: S-EPMC3399512 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature