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Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation
Author(s) -
Loffeld A.,
McLellan N.J.,
Cole T.,
Payne S.J.,
Fricker D.,
Moss C.
Publication year - 2006
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2006.07196.x
Subject(s) - loss of heterozygosity , pten , proteus syndrome , mutation , biology , genetics , cancer research , medicine , gene , pi3k/akt/mtor pathway , allele , apoptosis
Summary 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.