SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE
Purpose of the study was to assess the spectrum of molecular genetic disorders and the variety of clinical forms in patients with Stargardt disease. Material and methods. 56 patients aged 15-44 years who had been diagnosed with Stargardt disease in a history or at the time of the examination were in...
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| Format: | Article |
| Language: | Russian |
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Russian Academy of Sciences, Siberian Branch Publishing House
2019-02-01
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| Series: | Сибирский научный медицинский журнал |
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| Online Access: | https://sibmed.elpub.ru/jour/article/view/69 |
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| author | N. L. Sheremet I. G. Grushke N. V. Zhorzholadze I. A. Ronzina A. A. Mikaelyan S. A. Kurbatov V. V. Kadyshev K. I. Anoshkin V. V. Strelnikov |
| author_facet | N. L. Sheremet I. G. Grushke N. V. Zhorzholadze I. A. Ronzina A. A. Mikaelyan S. A. Kurbatov V. V. Kadyshev K. I. Anoshkin V. V. Strelnikov |
| author_sort | N. L. Sheremet |
| collection | DOAJ |
| description | Purpose of the study was to assess the spectrum of molecular genetic disorders and the variety of clinical forms in patients with Stargardt disease. Material and methods. 56 patients aged 15-44 years who had been diagnosed with Stargardt disease in a history or at the time of the examination were included in the study. All patients underwent standard complete ophthalmic examination, as well as high-performance parallel sequencing of the coding sequences and adjacent areas of the introns of the ABCA4, ELOVL4, PROM1 and CNGB3 genes, as well as of the minor exons of the ABCA4 gene. Results. Mutations in one of 4 genes ( ABCA4, ELOVL4, PROM1 and CNGB3 ) were detected in 46 of 56 patients (82.1 %). An inverse correlation was found between the duration of the disease and the loss of visual acuity per year for the three groups ( k = -0.86, k = -0.93, k = -0.63, p < 0.05, respectively, with the debut of the Stargardt disease at 10 year, 11-30 year and > 31 year). A frequent mutation of the ABCA4 gene, p.G1961E was detected in 18 patients and in 83 % of cases (15 patients) is associated with a mild course of Stargardt disease. Complex mutation [p.L541P, p.A1038V] was detected in 17 patients, in 53 % (9 people) of cases was associated with more severe phenotype. However, in the compound heterozygous state with the missense mutation p.G1961E, a relatively mild course of the disease was observed. Conclusions. The loss of visual functions in Stargardt disease depends on the severity of the genetic defect in each case and on the disease’s duration in general. |
| format | Article |
| id | doaj-art-dd9051f9de144ecca4e63b03284bd4cb |
| institution | Kabale University |
| issn | 2410-2512 2410-2520 |
| language | Russian |
| publishDate | 2019-02-01 |
| publisher | Russian Academy of Sciences, Siberian Branch Publishing House |
| record_format | Article |
| series | Сибирский научный медицинский журнал |
| spelling | doaj-art-dd9051f9de144ecca4e63b03284bd4cb2025-08-20T03:50:44ZrusRussian Academy of Sciences, Siberian Branch Publishing HouseСибирский научный медицинский журнал2410-25122410-25202019-02-01385657110.15372/SSMJ2018051169SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASEN. L. Sheremet0I. G. Grushke1N. V. Zhorzholadze2I. A. Ronzina3A. A. Mikaelyan4S. A. Kurbatov5V. V. Kadyshev6K. I. Anoshkin7V. V. Strelnikov8Scientific Research Institute of Eye DiseasesScientific Research Institute of Eye DiseasesScientific Research Institute of Eye DiseasesScientific Research Institute of Eye DiseasesScientific Research Institute of Eye DiseasesVoronezh Regional Medical Diagnostic CentreResearch Centre for Medical GeneticsResearch Centre for Medical GeneticsResearch Centre for Medical GeneticsPurpose of the study was to assess the spectrum of molecular genetic disorders and the variety of clinical forms in patients with Stargardt disease. Material and methods. 56 patients aged 15-44 years who had been diagnosed with Stargardt disease in a history or at the time of the examination were included in the study. All patients underwent standard complete ophthalmic examination, as well as high-performance parallel sequencing of the coding sequences and adjacent areas of the introns of the ABCA4, ELOVL4, PROM1 and CNGB3 genes, as well as of the minor exons of the ABCA4 gene. Results. Mutations in one of 4 genes ( ABCA4, ELOVL4, PROM1 and CNGB3 ) were detected in 46 of 56 patients (82.1 %). An inverse correlation was found between the duration of the disease and the loss of visual acuity per year for the three groups ( k = -0.86, k = -0.93, k = -0.63, p < 0.05, respectively, with the debut of the Stargardt disease at 10 year, 11-30 year and > 31 year). A frequent mutation of the ABCA4 gene, p.G1961E was detected in 18 patients and in 83 % of cases (15 patients) is associated with a mild course of Stargardt disease. Complex mutation [p.L541P, p.A1038V] was detected in 17 patients, in 53 % (9 people) of cases was associated with more severe phenotype. However, in the compound heterozygous state with the missense mutation p.G1961E, a relatively mild course of the disease was observed. Conclusions. The loss of visual functions in Stargardt disease depends on the severity of the genetic defect in each case and on the disease’s duration in general.https://sibmed.elpub.ru/jour/article/view/69abca4elovl4prom1cngb3stargardt diseasecone-rod dystrophymutationhigh-performance parallel sequencingabca4elovl4prom1cngb3 |
| spellingShingle | N. L. Sheremet I. G. Grushke N. V. Zhorzholadze I. A. Ronzina A. A. Mikaelyan S. A. Kurbatov V. V. Kadyshev K. I. Anoshkin V. V. Strelnikov SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE Сибирский научный медицинский журнал abca4 elovl4 prom1 cngb3 stargardt disease cone-rod dystrophy mutation high-performance parallel sequencing abca4 elovl4 prom1 cngb3 |
| title | SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE |
| title_full | SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE |
| title_fullStr | SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE |
| title_full_unstemmed | SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE |
| title_short | SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE |
| title_sort | spectrum of molecular genetic alterations and diversity of clinical forms of stargardt disease |
| topic | abca4 elovl4 prom1 cngb3 stargardt disease cone-rod dystrophy mutation high-performance parallel sequencing abca4 elovl4 prom1 cngb3 |
| url | https://sibmed.elpub.ru/jour/article/view/69 |
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