Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing

Sung, Youngje; Choi, Seung Woo; Shim, Sung Han; Song, Won Kyung

doi:10.1159/000490073

Cited by 10 publications

(9 citation statements)

References 26 publications

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“…Especially in Asia, the causative genes of STGD other than ABCA4 are rarely found 232526. In a recent study that included clinically diagnosed Korean STGD patients, 17 out of 24 (70.8%) patients were detected to have ABCA4 mutations 8. No potential mutations in the ELOVL4 and PROM1 were, however, found.…”

Section: Discussionmentioning

confidence: 99%

“…Because of the genetic and phenotypic heterogeneity, identification of the causative genetic variants linked to IRD is needed for the accurate diagnosis and treatment of these patients. As the next-generation sequencing (NGS) technology, which can save tremendous cost and time as compared to the previous technologies, has rapidly developed, identification of the causative genes responsible for IRD has dramatically improved 4567891011. To date, about 270 genes have been identified as the cause of IRD in accordance with RetNet database (https://sph.uth.edu/retnet/).…”

Section: Introductionmentioning

confidence: 99%

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Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

et al. 2019

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Background Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea. Methods Medical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD. Results Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. ABCA4 was the most common causative gene associated with IRD and was responsible for causing Stargardt disease (n = 6), RP (n = 1), and cone dystrophy (n = 1). In particular, mutations in EYS were found in 4 of 14 autosomal recessive RP (29%). All cases of Stargardt disease had a mutation in the ABCA4 gene with an autosomal recessive trait. Conclusion This study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

et al. 2019

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“…In previous studies, the incidents of STGD-associated variants in ABCA4 were 70.5% in the Russian Federation, 70.8% in Korea, 67% in Portugal, and 60.5% in Spain (Fumagalli et al, 2001;Maia-Lopes et al, 2009;Riveiro-Alvarez et al, 2009;Sung, Choi, Shim, & Song, 2019;Zolnikova et al, 2017). In previous studies, the incidents of STGD-associated variants in ABCA4 were 70.5% in the Russian Federation, 70.8% in Korea, 67% in Portugal, and 60.5% in Spain (Fumagalli et al, 2001;Maia-Lopes et al, 2009;Riveiro-Alvarez et al, 2009;Sung, Choi, Shim, & Song, 2019;Zolnikova et al, 2017).…”

Section: Discussionmentioning

confidence: 92%

“…In this study, we identified eight families (66.67%) with disease‐causing variants in the ABCA4 gene. In previous studies, the incidents of STGD‐associated variants in ABCA4 were 70.5% in the Russian Federation, 70.8% in Korea, 67% in Portugal, and 60.5% in Spain (Fumagalli et al., ; Maia‐Lopes et al., ; Riveiro‐Alvarez et al., ; Sung, Choi, Shim, & Song, ; Zolnikova et al., ). This study also showed no potential variants in other Stargardt‐like‐associated genes, which is consistent with the findings in a previous study on Chinese patients (Xin et al., ).…”

Section: Discussionmentioning

confidence: 93%

Application of targeted exome and whole‐exome sequencing for Chinese families with Stargardt disease

Dan

Huang

Xing

et al. 2019

Annals of Human Genetics

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Objective: The aim of this study was to investigate pathogenic variants and molecular etiologies of Stargardt disease (STGD) in a cohort of Chinese families. Materials and Methods:A cohort of 12 unrelated STGD families diagnosed on the basis of clinical manifestations underwent analysis by targeted exome or whole-exome sequencing. Bioinformatics analysis, Sanger sequencing, and cosegregation analysis of available family members were used to validate sequencing data and confirm the presence of disease-causing genes.Results: Using targeted exome and whole-exome sequencing, we found that eight families had disease-causing variants in the ABCA4 gene, one family had only one heterozygous variant in the ABCA4 gene, and the remaining three families have not been identified with any disease-causing variants for STGD. We identified 15 variants in the ABCA4 gene; of these, five variants have not been previously described for STGD. Conclusion:The findings in this study expand the data regarding the frequency and spectrum of variants in the ABCA4 gene, thus potentially enriching our understanding of the molecular basis of STGD. Moreover, they constitute clues for future STGD diagnosis and therapy.

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“…Stargardt disease is the most common autosomal recessive type of juvenile-onset macular dystrophy, with an estimated prevalence of 1: 8,000 to 1: 10,000 individuals (1) . Described in 1909 by Karl Stargardt (2) , the disease is bilateral and symmetrical in appearance and its main feature is the decrease in central vision that starts around the first or second decade of life (3,4) . The typical finding at the eye fundus is a pigmentary maculopathy, which manifests itself as a decreased foveal reflex, pigment mottling, beaten-bronze reflex, and bull's eye pigment appearance; furthermore, it can progress to macular atrophy.…”

Section: Introductionmentioning

confidence: 99%

Perfil clínico e eletrorretinográfico de 27 pacientes com doença de Stargardt atendidos em um hospital do Brasil

Schafranski¹,

Müller²,

Sato³

2021

ABO

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Stargardt disease is the most common type of juvenile-onset macular dystrophy. It is bilateral and symmetrical in appearance, affects the macula, and its main characteristic is the loss of central vision that starts in the first or second decade of life. The purpose of this study was to describe the profile of the patients evaluated at the Complexo Hospital de Clínicas da Universidade Federal do Paraná, as well as describe the electroretinographic findings with the full-field electroretinogram in these patients. Methods: An observational, retrospective study was performed by analysis of records and electroretinographic examinations of 27 patients with Stargardt disease and fundus flavimaculatus who were treated at the Complexo Hospital de Clínicas da Universidade Federal do Paraná's Department of Ocular Electrophysiology and Neuro-Ophthalmology between 1997 and 2014. The patients included in this study presented clinical features, fundus examination and/or electroretinographic findings compatible with Stargardt disease. Results: The visual acuity in the best eye varied from 0 to 1.6 logMAR (20/20 to 20/800) with an average of 0.89 ± 0.42 logMAR. The age at onset of symptoms varied from since birth to 36 years old (average 19.2 ± 9.2) with the majority of patients having symptom onset in the first or second decade of life. The mean time from the disease's first symptoms until the diagnosis was 7.3 years. In the fundus examination, every patient presented some kind of abnormality. In the electroretinogram analysis, the majority of patients had results that differed from those of sample controls, i.e., reduced amplitude and increased implicit time in the photopic and scotopic phases. Conclusions: The visual acuity and the age at symptoms onset in this study were compatible with the natural history of this dystrophy. The typical fundus appearance of Stargardt disease and altered electroretinogram were more frequent because of the delay until diagnosis. New prospective studies are necessary to evaluate these patients based on emergent technologies.

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Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing

Cited by 10 publications

References 26 publications

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

Application of targeted exome and whole‐exome sequencing for Chinese families with Stargardt disease

Perfil clínico e eletrorretinográfico de 27 pacientes com doença de Stargardt atendidos em um hospital do Brasil

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