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Eyelid myxoma in Carney complex without PRKAR1A allelic loss
Author(s) -
Tsilou Ekaterini T.,
Chan ChiChao,
Sandrini Fabiano,
Rubin Benjamin I.,
Shen De Fen,
Carney J. Aidan,
KaiserKupfer Muriel,
Stratakis Constantine A.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30279
Subject(s) - carney complex , haploinsufficiency , eyelid , loss of heterozygosity , myxoma , lesion , pathology , allele , dermatology , immunohistochemistry , medicine , biology , phenotype , genetics , surgery , gene
Eyelid nodules were investigated in a patient with Carney complex who was heterozygous for the most commonly known PRKAR1A ‐inactivating mutation, c.578delTG. Immunohistochemical studies confirmed the diagnosis of myxoma. Loss of heterozygosity was not present, suggesting that haploinsufficiency alone was responsible for tumorigenesis of this eyelid lesion. Published 2004 Wiley‐Liss, Inc.