A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Abstract

Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. Methods: Complete ophthalmic examination and next-generation sequencing. Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma. Conclusion: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.

Detaljer

Författare
  • Virginie G. Peter
  • Konstantinos Nikopoulos
  • Mathieu Quinodoz
  • Lotta Granse
  • Pietro Farinelli
  • Andrea Superti-Furga
  • Sten Andréasson
  • Carlo Rivolta
Enheter & grupper
Externa organisationer
  • University of Leicester
  • University of Copenhagen
  • University of Lausanne
  • Lausanne University Hospital
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Oftalmologi
  • Medicinsk genetik

Nyckelord

Originalspråkengelska
Sidor (från-till)177-181
TidskriftOphthalmic Genetics
Volym40
Utgivningsnummer2
Tidigt onlinedatum2019 apr 23
StatusPublished - 2019
PublikationskategoriForskning
Peer review utfördJa