title: Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Surgery, University of California, San Diego, La Jolla 92093-0688, USA.
authors.forename: A F
authors.initials: AF
authors.lastname: Zigman
authors.forename: J E
authors.initials: JE
authors.lastname: Lavine
authors.forename: M C
authors.initials: MC
authors.lastname: Jones
authors.forename: C R
authors.initials: CR
authors.lastname: Boland
authors.forename: J M
authors.initials: JM
authors.lastname: Carethers
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D003072:Cognition Disorders / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006801:Humans; D008067:Lipoma / Q000235:genetics*; D008297:Male; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D013577:Syndrome
chemical_list: D017027:Protein Tyrosine Phosphatases