Analysis of genetic and phenotypic heterogeneity in juvenile polyposis
作者： K Woodford-Richens , S Bevan , Michael Churchman , B Dowling , D Jones
DOI: 10.1136/GUT.46.5.656
关键词:
摘要: Background—Juvenile polyposis syndrome (JPS) is characterised by gastrointestinal (GI) hamartomatous and an increased risk of GI malignancy. Juvenile polyps also occur in the Cowden (CS), Bannayan-Ruvalcaba-Riley (BRRS) Gorlin (GS) syndromes. Diagnosing JPS can be problematic because it relies on exclusion CS, BRRS, GS. Germline mutations PTCH, PTEN DPC4 (SMAD4) genes cause GS, CS/BRRS, JPS, respectively. Aims—To examine contribution PTEN, to JPS. Methods—Forty seven individuals from 15 families nine apparently sporadic cases with were screened for germline DPC4, PTCH. Results—No patient had a mutation or Five diVerent detected DPC4; three these deletions, one single base substitution creating stop codon, missense change. None patients distinguishing clinical features. Conclusions—Mutations PTCH are unlikely juvenile absence features indicative A proportion harbour (21% this study) but there remains uncharacterised genetic heterogeneity (Gut 2000;46:656‐660)
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