Genetic analysis of a family with hereditary glomuvenous malformations.
Glomuvenous malformations (MIM 138000) are rare vascular malformations consisting of glomus cells, and in affected individuals, lesions may appear in any number anywhere on the body. We analysed the DNA of one family with hereditary glomuvenous malformations and identified the mutation causing the disease in the glomulin gene on chromosome 1 p22. The deletion started at base pair 157: 157delAAGAA, which is a deletion of five base pairs. This mutation has been found in Europe, the USA and Australia, suggesting a founder effect with common ancestry. Thus far, no second-hit mutation for the 157delAAGAA mutation has been identified.
Ostberg
Anna
A
Department of Dermatology, St George Hospital, Gray Street, Kogarah, New South Wales 2217, Australia.
Moreno
Gilberto
G
Su
Tina
T
Trisnowati
Niken
N
Marchuk
Douglas
D
Murrell
Dédée F
DF
Murrell
Dedee
D
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001315:Australia; D001483:Base Sequence; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D005918:Glomus Tumor / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
D048868:Adaptor Proteins, Signal Transducing; C103024:GLMN protein, human