A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

ABSTRACT: We describe a novel germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer. This mutation consists of two consecutive substitutions (735-6 TG>AT) that cause two nonsense mutations (Y245X, G246X), inherited in an autosomal dominant fashion, on one parental chromosome. This mutation caused protein truncation, and represents a novel case of consecutive nonsense mutations in human disease.

SUBMITTER: Howe JR 

PROVIDER: S-EPMC2674273 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature