title: Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
abstract: We report on an 18-month-old boy with an interstitial deletion at 10q23.2-q24.1. This region includes the PTEN gene, mutations of which have been reported to cause Cowden disease. Our patient presented with manifestations of Bannayan-Riley-Ruvalcaba (BRR) syndrome. The BRR syndrome is a rare disorder which presents most commonly in childhood. Cowden disease is a disease of adulthood and is inadequately described in children. Because of the considerable phenotypic overlap between the two disorders, and the cytogenetic and molecular findings in our patient, we suggest that BRR syndrome and Cowden disease are allelic.
authors.affiliation: Dept. of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3914, USA.
authors.forename: E M
authors.initials: EM
authors.lastname: Arch
authors.forename: B K
authors.initials: BK
authors.lastname: Goodman
authors.forename: R A
authors.initials: RA
authors.lastname: Van Wesep
authors.forename: D
authors.initials: D
authors.lastname: Liaw
authors.forename: K
authors.initials: K
authors.lastname: Clarke
authors.forename: R
authors.initials: R
authors.lastname: Parsons
authors.forename: V A
authors.initials: VA
authors.lastname: McKusick
authors.forename: M T
authors.initials: MT
authors.lastname: Geraghty
mesh_terms: D000328:Adult; D000483:Alleles; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D019465:Craniofacial Abnormalities / Q000235:genetics*; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics*; D006391:Hemangioma / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008067:Lipoma / Q000235:genetics*; D008297:Male; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins
chemical_list: D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D017027:Protein Tyrosine Phosphatases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human