Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation
A Loffeld, NJ McLellan, T Cole, SJ Payne… - British Journal of …, 2006 - academic.oup.com
British Journal of Dermatology, 2006•academic.oup.com
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.
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.
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.
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