Genes and Mutations in Autosomal Dominant Cone and Cone-Rod Dystrophy

  • Susanne Kohl
  • Veronique Kitiratschky
  • Monika Papke
  • Simone Schaich
  • Alexandra Sauer
  • Bernd Wissinger
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 723)

Abstract

To date, mutations in ten genes have been described to cause autosomal dominant cone or cone-rod dystrophies; sometimes only a single report. Since a systematic investigation for these genes in patients with adCD and adCRD are lacking, we undertook a study to determine the prevalence and mutation spectrum of PRPH2, CRX, GUCA1A, GUCY2D, AIPL1, UNC119, PROM1 and PITPNM3 mutations in 52 unrelated patients and families with this rare diagnosis. We identified 15 different mutations in 25 families with adCD and adCRD: one patient carried a mutation in PROM1 (2%), 2 in CRX (4%), 4 in GUCA1A (8%), 6 in PRPH2 (11%) and 12 in GUCY2D (23%). Our analyses show that mutations in these genes account for ∼50% of all adCD and adCRD cases, while the other half still remains unsolved. No pathogenic variants were identified in AIPL1, UNC119 and PITPNM3 indicating that these only play a minor role in adCD and adCRD.

Keywords

Cone dystrophy Cone-rod dystrophy Retinal degeneration PRPH2 CRX GUCA1A GUCY2D AIPL1 UNC119 PROM1 PITPNM3 

Notes

Acknowledgments

We thank all patients participating and all clinicians contributing patients to this study, and Britta Baumann for excellent technical assistance. This study was supported by the German Research Council DFG (KFO134:Ko2176/2-1).

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Susanne Kohl
    • 1
  • Veronique Kitiratschky
    • 1
  • Monika Papke
    • 1
  • Simone Schaich
    • 1
  • Alexandra Sauer
    • 1
  • Bernd Wissinger
    • 1
  1. 1.Department for Ophthalmology, Molecular Genetics Laboratory, Institute for Ophthalmic ResearchUniversity TuebingenS TuebingenGermany

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