Gastroenterology · 1997
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23.
СтатьяПоддержка исследования: вне правительства СШАПоддержка правительства СШАПоддержка службы здравоохранения СШАНазвание и аннотация: Перевод в очереди
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Zigman A F, Lavine J E, Jones M C, Boland C R, Carethers J M
Аннотация
BACKGROUND & AIMS: Bannayan-Riley-Ruvalcaba syndrome is a congenital syndrome with characteristic features of macrocephaly, cognitive and motor dysfunction, subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis. It has been suggested that Bannayan-Riley-Ruvalcaba syndrome may be a variant of juvenile polyposis coli because of the shared features of intestinal juvenile polyps. The aim of this study was to precisely map loss of DNA from 2 patients with intestinal juvenile polyposis and karyotypic abnormalities involving chromosome 10q.
METHODS: DNA was extracted from peripheral leukocytes drawn from each patient and each patient's biological parents. The DNA was amplified by polymerase chain reaction using primers specific for microsatellites located on chromosome 10q.
RESULTS: Precise mapping localized a maximal distance of 1.0 cM that was commonly deleted from each patient's genome, between D10S541 and D10S1735. This area overlaps the region for Cowden disease, a distinct hamartomatous intestinal polyposis syndrome with increased risk of breast and thyroid carcinoma.
CONCLUSIONS: The three hamartomatous polyposis syndromes, Bannayan-Riley-Ruvalcaba syndrome, juvenile polyposis coli, and Cowden disease, may share the same genetic defect because of their common map localization to chromosome 10q23.
METHODS: DNA was extracted from peripheral leukocytes drawn from each patient and each patient's biological parents. The DNA was amplified by polymerase chain reaction using primers specific for microsatellites located on chromosome 10q.
RESULTS: Precise mapping localized a maximal distance of 1.0 cM that was commonly deleted from each patient's genome, between D10S541 and D10S1735. This area overlaps the region for Cowden disease, a distinct hamartomatous intestinal polyposis syndrome with increased risk of breast and thyroid carcinoma.
CONCLUSIONS: The three hamartomatous polyposis syndromes, Bannayan-Riley-Ruvalcaba syndrome, juvenile polyposis coli, and Cowden disease, may share the same genetic defect because of their common map localization to chromosome 10q23.