Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.

Abstract

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.

• Authors: Riccardo G Borroni, Sara Grassi, Marta Diegoli, Maurizia Grasso, Eloisa Arbustini
• Journal: International journal of dermatology (Int J Dermatol) Vol. 53 Issue 11 Pg. 1362-4 (Nov 2014) ISSN: 1365-4632 [Electronic] England
• PMID: 24961656 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2014 The International Society of Dermatology.

Chemical References

• Adaptor Proteins, Signal Transducing
• GLMN protein, human

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Adult
• Child, Preschool
• Female
• Glomus Tumor (genetics)
• Heterozygote
• Humans
• Mutation
• Paraganglioma, Extra-Adrenal (genetics)
• Pedigree
• Penetrance
• Skin Neoplasms (genetics)