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VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies
Author(s) -
White Karen,
Marquardt Andreas,
Weber Bernhard H.F.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200004)15:4<301::aid-humu1>3.0.co;2-n
Subject(s) - macular dystrophy , biology , macular degeneration , missense mutation , maculopathy , genetics , retinal , dystrophy , retinal pigment epithelium , mutation , gene , ophthalmology , retinopathy , medicine , endocrinology , biochemistry , diabetes mellitus
Abstract Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease). VMD2 is expressed in the retinal pigment epithelium and codes for a 585 amino acid putative transmembrane protein with undetermined functional properties. To date, 48 different mutations, predominantly missense, have been described in Best disease families. These mutations generally affect amino acids in the first 50% of the protein, and occur in four distinct clusters possibly representing regions of functional importance. VMD2 has also been investigated in other macular diseases. Mutations have been documented in a significant percentage of patients with adult vitelliform macular dystrophy (AVMD) and in a single case of “bull's‐eye” maculopathy. Results of analysis in two large series of individuals with age‐related macular degeneration (AMD) suggest that VMD2 does not play a major role in this prevalent disorder. Hum Mutat 15:301–308, 2000. © 2000 Wiley‐Liss, Inc.