Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
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.
Loffeld
A
A
Birmingham Children's Hospital, Birmingham B4 6NL, U.K. annette.loffeld@blueyonder.co.uk
McLellan
N J
NJ
Cole
T
T
Payne
S J
SJ
Fricker
D
D
Moss
C
C
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
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human