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Stargardt disease-associated mutation spectrum of a Russian Federation cohort.

  • Zolnikova, Inna V1
  • Strelnikov, Vladimir V2
  • Skvortsova, Natalia A3
  • Tanas, Alexander S2
  • Barh, Debmalya4
  • Rogatina, Elena V1
  • Egorova, Irina V1
  • Levina, Darja V1
  • Demenkova, Olga N1
  • Prikaziuk, Egor G5
  • Ivanova, Marianna E6
  • 1 Moscow Helmholtz Research Institute of Eye Diseases, Sadovaya Chernogryazskaya Str. 14/19, Moscow 105062, Russia.
  • 2 Research Centre for Medical Genetics, Moskvorechie Str. 1, Moscow 15478, Russia.
  • 3 Posterior Eye Segment Diagnostics and Surgery Centre, 2nd Vladimirskaya Str. b.2, 4th Floor, Moscow 111123, Russia.
  • 4 Centre for Genomics and Applied Gene Technology, Institute of Integrative Omics and Applied Biotechnology (IIOAB), Nonakuri, Purba Medinipur, WB 721172, India; Xcode Life Sciences, 3D Eldorado, 112 Nungambakkam High Road, Nungambakkam, Chennai, Tamil Nadu 600034, India. Electronic address: [email protected] , (India)
  • 5 Bioinformatics Institute, Kantemirovskaya Str. b.2a, Saint Petersburg 197342, Russia.
  • 6 Оftalmic LLC, Bardina Str. 4, Moscow 119334, Russia.
Published Article
European journal of medical genetics
Publication Date
Feb 01, 2017
DOI: 10.1016/j.ejmg.2016.12.002
PMID: 27939946


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.

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