RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

doi:10.1136/jmg.34.8.620

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Article

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

Journal of medical genetics - 1 Aug 1997

Kohl S, Christ-Adler M, Apfelstedt-Sylla E, Kellner U, Eckstein A, Zrenner E, Wissinger B

Abstract excerpt

Patients from 76 independent families with various forms of mostly central retinal dystrophies were screened for mutations in the RDS/peripherin gene by means of SSCP analysis and direct DNA sequencing. Two nonsense mutations (Gln239ter, Tyr285ter), five missense mutations (Arg172Trp, Lys197Glu, Gly208Asp, Trp246Arg, Ser289Leu), and one single base insertion (Gly208insG), heterozygous in all cases, were detected....

Topics

Exons
Eye Proteins
Female
Humans
Intermediate Filament Proteins
Male
Membrane Glycoproteins
Mutation
Nerve Tissue Proteins
Pedigree
Peripherins
Polymorphism, Single-Stranded Conformational
Retinal Degeneration
Sequence Analysis, DNA

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Identifiers

PMID: 9279751
DOI: 10.1136/jmg.34.8.620
PMCID: PMC1051021

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