Stargardt disease-associated mutation spectrum of a Russian Federation cohort

Inna V. Zolnikova, Vladimir V. Strelnikov, Natalia A. Skvortsova, Alexander S. Tanas, Debmalya Barh*, Elena V. Rogatina, Irina V. Egorova, Darja V. Levina, Olga N. Demenkova, Egor G. Prikaziuk, Marianna E. Ivanova

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Scopus)


ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients from 10 ethnic groups. We found ABCA4 variations in 70.5% cases and one case with BEST1 variation. Multiple ABCA4 variations, ABCA4 + RDH12, and ABCA4 + BEST1 variations are also observed and the disease severity is found proportionate to the variation burden. Ten novel ABCA4 variations are detected of which 8 belongs to non-Slavonian population. Most of the detected known variations are found in European and American Stargardt disease populations. No retinopathy causing variation is detected in 14 (27%) cases suggesting that in this Russian retinopathies cohort the causal variants could be in genes that are not covered by our 325 gene panel. Therefore, whole genome/exome analysis is required to identify novel retinopathy associated genes and provide better disease management for this heterogeneous cohort.

Original languageEnglish
Pages (from-to)140-147
Number of pages8
JournalEuropean Journal of Medical Genetics
Issue number2
Publication statusPublished - 1 Feb 2017
Externally publishedYes


  • Gene mutation
  • Genotype-phenotype correlation
  • Next-generation sequencing
  • Retinal dystrophies
  • Retinopathy
  • Stargardt disease


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