Article
A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?
Journal of gastroenterology and hepatology - 1 Dec 2007
Chow Elizabeth, Lipton Lara, Carvajal-Carmona Luis G, Arthur Gordon, Bhathal Prithi, Kaur Gurjeet, Jaeger Emma, Woodford-Richens Kelly, Howarth Kimberley, Tomlinson Ian, Macrae Finlay
Abstract excerpt
BACKGROUND AND AIM: Familial juvenile polyposis syndrome (JPS) is a rare autosomal dominant condition in which patients develop hamartomatous gastrointestinal polyps with malignant potential. Pathogenic germline mutations in both the SMAD4 and BMPR1A genes involved in the transforming growth factor beta pathway account for 40% of cases of JPS. Genetic heterogeneity remains evident, as the balance of cases is not...
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