title: 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: Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico "San Matteo", Pavia, Italy.
authors: Riccardo G
authors: RG
authors: Borroni
authors: Sara
authors: S
authors: Grassi
authors: Marta
authors: M
authors: Diegoli
authors: Maurizia
authors: M
authors: Grasso
authors: Eloisa
authors: E
authors: Arbustini
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005918:Glomus Tumor / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010236:Paraganglioma, Extra-Adrenal / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C103024:GLMN protein, human