Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation

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...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	British journal of dermatology (1951) 2006-06, Vol.154 (6), p.1194-1198
Hauptverfasser:	Loffeld, A., McLellan, N.J., Cole, T., Payne, S.J., Fricker, D., Moss, C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Child, Preschool Complex syndromes Dermatology Germ-Line Mutation Humans Loss of Heterozygosity Male Medical genetics Medical sciences Nevus, Pigmented - genetics Nevus, Pigmented - pathology Pedigree Proteus syndrome Proteus Syndrome - genetics PTEN PTEN Phosphohydrolase - genetics Skin Neoplasms - genetics Skin Neoplasms - pathology Tumors of the skin and soft tissue. Premalignant lesions
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	0007-0963 1365-2133
DOI:	10.1111/j.1365-2133.2006.07196.x