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