A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis
James R Howe1, Sathivel Chinnathambi, Daniel Calva
1Department of Surgery, University of Iowa Carver College of Medicine, 4644 JCP, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242-1086, USA. james-howe@uiowa.edu
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.
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