Mutation in Brief

Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations

  1. MJ Trujillo1,*,
  2. J Bueno2,
  3. A Osorio1,
  4. R Sanz1,
  5. B Garcia-Sandoval2,
  6. C Ramos1,
  7. C Ayuso1

Article first published online: 7 DEC 1999

DOI: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU11>3.0.CO;2-M

Issue

Human Mutation

Human Mutation

Additional Information

How to Cite

Trujillo, M., Bueno, J., Osorio, A., Sanz, R., Garcia-Sandoval, B., Ramos, C. and Ayuso, C. (1998), Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations . Human Mutation, 12: 70. doi: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU11>3.0.CO;2-M

Author Information

  1. 1

    Department of Genetics, Fundación Jiménez Díaz

  2. 2

    Department of Ophthalmology, Fundación Jiménez Díaz

*Department of Genetics, Fundación Jiménez Díaz, Avenida de los Reyes Católicos No 2, 28040 Madrid, Spain; Fax: 34-1 544 87 35

Publication History

  1. Issue published online: 7 DEC 1999
  2. Article first published online: 7 DEC 1999
  3. Manuscript Accepted: 15 OCT 1997
  4. Manuscript Received: 5 JUN 1997

Funded by

  • Fundación ONCE/FAARPEE
  • F.I.S. 96/0006501E

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Keywords:

  • RDS-peripherin gene;
  • macular dystrophies;
  • retinitis pigmentosa

Abstract

Among 43 unrelated Spanish patients affected with autosomal dominant (AD) photoreceptor disorders a study of RDS-peripherin gene was performed. We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP. Hum Mutat 12:70, 1998. © 1998 Wiley-Liss, Inc.

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