Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

Human Mutation

Volumn 10, Issue 4, 1997, Pages 301-309

  Felbor, Ute ^a   Schilling, Harald ^b   Weber, Bernhard H F ^a,c  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Adult vitelliform macular dystrophy; Chromosome 6p21; Macular degeneration; Peripherin RDS

Indexed keywords

DNA; MEMBRANE PROTEIN; METHIONINE; PERIPHERIN; THREONINE;

ADULT; AGED; ALLELE; ARTICLE; CHROMOSOME 6P; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ELECTROOCULOGRAPHY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HUMAN; MALE; PHENOTYPE; PHOTORECEPTOR; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA MACULA DEGENERATION;

EID: 0030930234     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J     Document Type: Article

References (7)

1. Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E (1995) Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol 79:28-34.
2. Best FC (1905) Über eine hereditäre Maculaaffektion: Beiträge zur Vererbungslehre. Augenheilk 13:199-212.
3. Brecher R, Bird AC (1990) Adult vitelliform macular dystrophy. Eye 4:210-215.
4. Connell J, Molday RS (1990) Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochemistry 29:4691-4698.
5. Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries P (1991a) A sequence polymorphism in the human peripherin/RDS gene. Nucleic Acids Res 19:6982.
6. Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp E, Sheils DM, Humphries P (1991b) A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 354:478-480.
7. Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D, Humphries P (1992) Autosomal dominant retinitis pigmentosa: A novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. Genomics 14:805-807.