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Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/ RDS gene
Author(s) -
Felbor Ute,
Schilling Harald,
Weber Bernhard H. F.
Publication year - 1997
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(1997)10:4<301::aid-humu6>3.0.co;2-j
Subject(s) - peripherin , biology , retinitis pigmentosa , genetics , mutation , macular dystrophy , retinal degeneration , point mutation , phenotype , gene , allele , macular degeneration , genetic heterogeneity , medicine , ophthalmology
Mutations in the peripherin/ RDS gene, which encodes a photoreceptor‐specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as retinitis pigmentosa or macular degeneration are still unknown. Recently, a single case of adult vitelliform macular dystrophy (AVMD) has been associated with a Y258Stop mutation. To assess the frequency of peripherin/RDS mutations in the clinically heterogeneous group of AVMD, we analyzed the entire coding region of the gene in 28 unrelated patients. We identified five novel mutations including two presumed null allele mutations. Thus, our results demonstrate that a significant portion of AVMD patients (18%) carry point mutations in peripherin/RDS, suggesting that this gene is frequently involved in the pathogenesis of this macular disorder. In addition, this study shows that the variable phenotypes in AVMD are due, at least in part, to genetic heterogeneity and are likely to be caused by mutations in disease genes thus far unknown. Hum Mutat 10:301–309, 1997. © 1997 Wiley‐Liss, Inc.