Genetic Variants Associated with Episodic Ataxia in Korea
| العنوان: | Genetic Variants Associated with Episodic Ataxia in Korea |
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| المؤلفون: | Seo Young Choi, Sang-Ho Kim, Seung-Han Lee, Hyo Jung Kim, Kwang-Dong Choi, Kyung-Pil Park, Hyang-Sook Kim, Dae-Seong Kim, Ji Soo Kim, Ileok Jung, Seong-Hae Jeong, Dong Uk Kim, Jae-Hwan Choi, Jin-Hong Shin |
| المصدر: | Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017) SCIENTIFIC REPORTS(7) Scientific Reports |
| بيانات النشر: | Nature Publishing Group, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Male, Candidate gene, DNA Mutational Analysis, lcsh:Medicine, CACNB4, medicine.disease_cause, 0302 clinical medicine, Child, lcsh:Science, Exome sequencing, Genetics, Mutation, Multidisciplinary, Middle Aged, Pedigree, Excitatory Amino Acid Transporter 1, Phenotype, Child, Preschool, Female, medicine.symptom, Adult, Adolescent, Ubiquitin-Protein Ligases, Biology, Article, 03 medical and health sciences, Young Adult, Republic of Korea, Exome Sequencing, medicine, Humans, Aged, Episodic ataxia, Cerebellar ataxia, Genetic heterogeneity, lcsh:R, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, biology.protein, Ataxia, Calmodulin-Binding Proteins, lcsh:Q, Calcium Channels, Kv1.1 Potassium Channel, 030217 neurology & neurosurgery, Biomarkers, Truncal ataxia |
| الوصف: | Episodic ataxia (EA) is a rare neurological condition characterized by recurrent spells of truncal ataxia and incoordination. Five genes (KCNA1, CACNA1A, CACNB4, SLC1A3, and UBR4) have been linked to EA. Despite extensive efforts to genetically diagnose EA, many patients remain still undiagnosed. Whole-exome sequencing was carried out in 39 Korean patients with EA to identify pathogenic mutations of the five known EA genes. We also evaluated 40 candidate genes that cause EA as a secondary phenotype or cerebellar ataxia. Eighteen patients (46%) revealed genetic information useful for establishing a molecular diagnosis of EA. In 11 patients, 16 pathogenic mutations were detected in three EA genes. These included nine mutations in CACNA1A, three in SLC1A3, and four in UBR4. Three patients had mutations in two genes, either CACNA1A and SLC1A3 or CACNA1A and UBR4, suggesting that SLC1A3 and UBR4 may act as genetic modifiers with synergic effects on the abnormal presynaptic activity caused by CACNA1A mutations. In seven patients with negative results for screening of EA genes, potential pathogenic mutations were identified in the candidate genes ATP1A2, SCN1A, TTBK2, TGM6, FGF14, and KCND3. This study demonstrates the genetic heterogeneity of Korean EA, and indicates that whole-exome sequencing may be useful for molecular genetic diagnosis of EA. |
| اللغة: | English |
| تدمد: | 2045-2322 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ead6df5e1f430599e747013afa45621Test http://link.springer.com/article/10.1038/s41598-017-14254-7Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....5ead6df5e1f430599e747013afa45621 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20452322 |
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