Eyelid myxoma in Carney complex without PRKAR1A allelic loss.

Am J Med Genet A 2004 Nov;130A(4):395-7

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Bldg. 10 Room 10N226, Bethesda, MD 20892, USA.

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.

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http://dx.doi.org/10.1002/ajmg.a.30279DOI Listing
November 2004

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