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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

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

Howe James R JR   Chinnathambi Sathivel S   Calva Daniel D   Bair Jennifer J   Pechman Brenda B   Salamon Agnes A   Tam Beatrix B   Simon László L  

Cancer genetics and cytogenetics 20080201 1

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. ...[more]

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