Incomplete penetrance of GLMN gene c.395–1G>C mutation in a family with glomuvenous malformations. (25th June 2014)

• Record Type: Journal Article
• Authors: Borroni, Riccardo G.; Grassi, Sara; Diegoli, Marta; Grasso, Maurizia; Arbustini, Eloisa
• Is Part Of: International journal of dermatology. Volume 53:Number 11(2014:Nov.)
• Page Start: 1362
• Page End: 1364
• Publication Date: 2014-06-25
• Subjects: Dermatology -- Periodicals; 616.5
• DOI: 10.1111/ijd.12588
• Languages: English
• ISSNs: 0011-9059

Abstract

<abstract abstract-type="main" id="ijd12588-abs-0001"> <title>Abstract</title> <p>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 <italic>glomulin</italic> (<italic>GLMN</italic>) gene; penetrance varies from 80% at 20 to about 100% at age 30 years. We report on the c.395–1G&gt;C mutation of <italic>GLMN</italic> gene in two siblings showing variable penetrance.</p> </abstract>