Glomuvenous malformations (GVMs, OMIM 138000) are hamartomas presenting in childhood as multiple, bluish, soft papules and nodules that tend to grow slowly in size and number with age. They are caused by autosomal dominant mutations in glomulin (GLMN) gene; penetrance varies from 80% at 20 to about 100% at age 30 years. We report on the c.395-1G>C mutation of GLMN gene in two siblings showing variable penetrance.
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Proposing GLMN, encoding glomulin, as a novel gene for Dowling-Degos disease.
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Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.
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Article Synopsis
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Background: Inherited hyperpigmented skin disorders comprise a group of entities with considerable clinical and genetic heterogenicity. The genetic basis of a majority of these disorders remains to be elucidated.
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Department of Obstetrics and Gynecology, Department of Oncology; Mayo Clinic, Rochester, MN, USA.
GLMN is a gene that encodes a critical protein necessary for normal vascular development. Mutations of GLMN predispose individuals to development of glomangiomas, with nearly 100% penetrance by age 30. Glomangiomas are tumors of the glomus body, a thermoregulatory arterial-venous shunt composed of modified smooth muscle cells.
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