title: Mutation analysis in Irish families with glomuvenous malformations.
abstract: BACKGROUND
  Glomuvenous malformations (GVMs) are rare bluish lesions that can affect the skin and mucosal surfaces. They represent defects in vasculogenesis. Lesions can occur sporadically or in an autosomal dominant mode of inheritance. Recent studies have shown that mutations in the glomulin gene (GLMN) on chromosome 1p21-22 are responsible for familial GVMs.
  
  
  OBJECTIVE
  To search for mutations in GLMN in Irish families with GVMs.
  
  
  METHODS
  We identified four Irish families with GVMs and confirmed linkage to chromosome 1p21-22 in these cases. We sequenced the glomulin gene in all affected and unaffected members of the families. Results Linkage analysis showed that affected individuals from the families shared a common haplotype. Mutation analysis revealed a delAAGAA mutation in exon 3 of the glomulin gene in all four families with GVMs.
  
  
  CONCLUSIONS
  We confirm that mutations in the glomulin gene are responsible for GVMs and suggest a founder Irish mutation in the glomulin gene in four Irish families.
authors.affiliation: Department of Dermatology, Waterford Regional Hospital, Ireland. artohagan@hotmail.com
authors.forename: A H
authors.initials: AH
authors.lastname: O'Hagan
authors.forename: F J
authors.initials: FJ
authors.lastname: Moloney
authors.forename: F
authors.initials: F
authors.lastname: Maloney
authors.forename: C
authors.initials: C
authors.lastname: Buckley
authors.forename: E A
authors.initials: EA
authors.lastname: Bingham
authors.forename: M Y
authors.initials: MY
authors.lastname: Walsh
authors.forename: K E
authors.initials: KE
authors.lastname: McKenna
authors.forename: D
authors.initials: D
authors.lastname: McGibbon
authors.forename: A E
authors.initials: AE
authors.lastname: Hughes
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D017353:Gene Deletion; D005918:Glomus Tumor / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C103024:GLMN protein, human