Molecular genetic diagnosis of Stargardt disease

Sheremet N.L.

FGBU "NII glaznykh bolezneĭ" RAMN

Zhorzholadze N.V.

FGBU "NII glaznykh bolezneĭ" RAMN

Ronzina I.A.

FGBU "NII glaznykh bolezneĭ" RAMN, Moskva

Grushke I.G.

Research Institute of Eye Diseases, 11 A, B, Rossolimo St., Moscow, Russia, 119021

Kurbatov S.A.

Regional non-governmental organization «Society of neuro-muscular diseases specialists», Moscow

Chukhrova A.L.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Loginova A.N.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Shcherbakova P.O.

Pirogov Russian National Research Medical University, 1 Ostrovityanova St., Moscow, Russia, 117997

Tanas A.S.

Research Centre of Medical Genetics, 1 Moskvorech’e St., Moscow, Russia, 115478

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Strel’nikov V.V.

Research Centre of Medical Genetics, 1 Moskvorech’e St., Moscow, Russian Federation, 115478

Molecular genetic diagnosis of Stargardt disease

Authors:

Sheremet N.L., Zhorzholadze N.V., Ronzina I.A., Grushke I.G., Kurbatov S.A., Chukhrova A.L., Loginova A.N., Shcherbakova P.O., Tanas A.S., Poliakov A.V., Strel’nikov V.V.

More about the authors

Journal: Russian Annals of Ophthalmology. 2017;133(4): 4‑11

DOI: 10.17116/oftalma201713344-11

Downloaded: 32

To cite this article:

Sheremet NL, Zhorzholadze NV, Ronzina IA, et al. . Molecular genetic diagnosis of Stargardt disease. Russian Annals of Ophthalmology. 2017;133(4):4‑11. (In Russ., In Engl.)
https://doi.org/10.17116/oftalma201713344-11

Подписка 2025 (Russian Annals of Ophthalmology)

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Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;(8):32-38

Aim — to comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallel sequencing of all coding regions of the ABCA4, ELOVL4, PROM1, and CNGB3 genes. Material and methods. MLPA analysis for 5 ABCA4 mutations, namely p.G863A, p.L541P, p.A1038V, p.G1961E, and p.P1380L, was done in 54 patients with SD. In 25 patients, massive parallel sequencing of coding regions (exons) and neighboring introns of the ABCA4, ELOVL4, PROM1, and CNGB3 genes was also performed. Results. Gene testing for 5 ABCA4 mutations showed that 50% of patients (27 patients) harbored one mutation and 13% - two mutations. At massive parallel sequencing (25 patients), two pathogenic alleles were found in 21 patients (84%), one mutation — in 23 patients (91.7%). The majority of mutations was accounted for by the ABCA4 gene (83% of all mutation-positive patients). Conclusion. Sequencing of exons and neighboring introns of the ABCA4, ELOVL4, PROM1, and CNGB3 genes with the new molecular genetic diagnostic system enabled confirmation of the diagnosis of SD in 84% of patients. High prevalence of p.L541P, p.A1038V, and p.G1961E mutations of the ABCA4 gene has been established.

Keywords:

Stargardt disease

mutation

ABCA4

ELOVL4

PROM1

CNGB3

massive parallel sequencing

genetic panel

next-generation sequencing

Authors:

Sheremet N.L.

FGBU "NII glaznykh bolezneĭ" RAMN

Zhorzholadze N.V.

FGBU "NII glaznykh bolezneĭ" RAMN

Ronzina I.A.

FGBU "NII glaznykh bolezneĭ" RAMN, Moskva

Grushke I.G.

Research Institute of Eye Diseases, 11 A, B, Rossolimo St., Moscow, Russia, 119021

Kurbatov S.A.

Regional non-governmental organization «Society of neuro-muscular diseases specialists», Moscow

Chukhrova A.L.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Loginova A.N.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Shcherbakova P.O.

Pirogov Russian National Research Medical University, 1 Ostrovityanova St., Moscow, Russia, 117997

Tanas A.S.

Research Centre of Medical Genetics, 1 Moskvorech’e St., Moscow, Russia, 115478

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Strel’nikov V.V.

Research Centre of Medical Genetics, 1 Moskvorech’e St., Moscow, Russian Federation, 115478

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