title: Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.
abstract: Germline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features, there seems to be a partial clinical overlap between the 2 diseases. To date, 9 families with BZS have been screened for PTEN mutations, of which 5 were found to exhibit mutations in this gene. We report 5 novel germline mutations in the PTEN coding sequence from 5 unrelated families with the BZS phenotype. While all the mutations we identified are novel in BZS, 1003C-->T (nonsense mutation) and 209+5G-->A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease. Interestingly, 1 of the families has an individual with BZS and 1 with CS phenotype, associated with a single PTEN mutation, 885insA. These data support the notion that CS and BZS may be within the spectrum of the same primary disorder.
authors.affiliation: Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: J
authors.initials: J
authors.lastname: Tok Celebi
authors.forename: F F
authors.initials: FF
authors.lastname: Chen
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.forename: X L
authors.initials: XL
authors.lastname: Ping
authors.forename: H C
authors.initials: HC
authors.lastname: Tsou
authors.forename: M
authors.initials: M
authors.lastname: Peacocke
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000097:blood / Q000235:genetics; D005091:Exons; D005260:Female; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D025521:Tumor Suppressor Proteins
chemical_list: D025521:Tumor Suppressor Proteins; D004247:DNA; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human