Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan
| Autor: | Ching-Wen Huang, Ta-Ching Chen, Yuh-Tsyr Chou, Pei-Lung Chen, Yu-Shu Huang, Allen Chilun Luo, Chao-Wen Lin |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Proband
Adult Male Pediatrics medicine.medical_specialty hereditary optic neuropathy Adolescent genetic structures Genetic counseling Visual impairment DNA Mutational Analysis Taiwan Genetic Counseling Optic Atrophy Hereditary Leber OPA1 QH426-470 Article GTP Phosphohydrolases Optic neuropathy WFS1 Young Adult Genotype Optic Atrophy Autosomal Dominant medicine autosomal dominant optic atrophy Genetics Humans Genetic Testing Child Genetics (clinical) Ethambutol Aged business.industry Genetic heterogeneity Membrane Proteins Middle Aged medicine.disease eye diseases Child Preschool Cohort Mutation Female next-generation sequencing medicine.symptom business medicine.drug |
| Zdroj: | Genes, Vol 12, Iss 1378, p 1378 (2021) Genes Volume 12 Issue 9 |
| ISSN: | 2073-4425 |
| Popis: | Hereditary optic neuropathy (HON) is a group of genetically heterogeneous diseases that cause optic nerve atrophy and lead to substantial visual impairment. HON may present with optic nerve atrophy only or in association with various systemic abnormalities. Although a genetic survey is indispensable for diagnosing HON, conventional sequencing techniques could render its diagnosis challenging. In this study, we attempted to explore the genetic background of patients with HON in Taiwan through capture-based next-generation sequencing targeting 52 HON-related genes. In total, 57 patients from 48 families were recruited, with 6 patients diagnosed as having Leber hereditary optic neuropathy through initial screening for three common variants (m.3460G> A, m.11778G> A, m.14484T> C). Disease-causing genotypes were identified in 14 (33.3%) probands, and OPA1 variants were the most prevalent cause of autosomal HON. Exposure to medications such as ethambutol could trigger an attack of autosomal dominant optic atrophy. WFS1 variants were identified in three probands with variable clinical features in our cohort. Hearing impairment could occur in patients with OPA1 or WFS1 variants. This is the first comprehensive study investigating the genetic characteristics of HON in Taiwan, especially for autosomal HON. Our results could provide useful information for clinical diagnosis and genetic counseling in this field. |
| Databáze: | OpenAIRE |
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