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Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
  1. C Ziviello1,2,*,
  2. F Simonelli3,*,
  3. F Testa3,
  4. M Anastasi4,
  5. S B Marzoli5,
  6. B Falsini6,
  7. D Ghiglione7,
  8. C Macaluso8,
  9. M P Manitto9,
  10. C Garrè10,
  11. A Ciccodicola2,
  12. E Rinaldi3,
  13. S Banfi1
  1. 1Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy
  2. 2Institute of Genetics and Biophysics “A Buzzati-Traverso”, CNR, Naples
  3. 3Department of Ophthalmology, Second University of Naples, Naples
  4. 4Department of Ophthalmology, University of Palermo, Palermo, Italy
  5. 5Neuro-ophthalmology Unit, University S Raffaele, Milan, Italy
  6. 6Department of Ophthalmology, Universita’ Cattolica del Sacro Cuore, Rome, Italy
  7. 7Department of Ophthalmology, University of Genova, Genova, Italy
  8. 8Department of Ophthalmology, University of Parma, Parma, Italy
  9. 9Department of Ophthalmology and Visual Science, University S Raffaele, Milan
  10. 10Department of Oncology, Biology and Genetics, University of Genova, Genova
  1. Correspondence to:
 Dr Sandro Banfi
 Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy;


Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms (ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901C→T (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and RP1 genes were also identified. Analysis of gene prevalences indicates that the relative involvement of the RHO and the RDS genes in the pathogenesis of ADRP is less in Italy than in US and UK populations. As causative mutations were not found in over 70% of the families analysed, this study suggests the presence of further novel genes or sequence elements involved in the pathogenesis of ADRP.

  • ADRP, autosomal dominant retinitis pigmentosa
  • dHPLC, denaturing high performance liquid chromatography
  • retinitis pigmentosa
  • ADRP

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  • * The first two authors equally contributed to this work

  • Competing interests: none declared