title: Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
abstract: A 3-year-old boy with Proteus syndrome has a novel germline p.Y68D mutation of the PTEN gene inherited from his mother who has Cowden syndrome. In addition, DNA extracted from curettings of his widespread epidermal naevus shows loss of heterozygosity for this mutation. To our knowledge, this has not been described before.
authors.affiliation: Birmingham Children's Hospital, Birmingham B4 6NL, U.K. annette.loffeld@blueyonder.co.uk
authors.forename: A
authors.initials: A
authors.lastname: Loffeld
authors.forename: N J
authors.initials: NJ
authors.lastname: McLellan
authors.forename: T
authors.initials: T
authors.lastname: Cole
authors.forename: S J
authors.initials: SJ
authors.lastname: Payne
authors.forename: D
authors.initials: D
authors.lastname: Fricker
authors.forename: C
authors.initials: C
authors.lastname: Moss
mesh_terms: D002675:Child, Preschool; D018095:Germ-Line Mutation; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D009508:Nevus, Pigmented / Q000235:genetics* / Q000473:pathology; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D010375:Pedigree; D016715:Proteus Syndrome / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human