Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease
| Autor: | Ping Xu, Fang Chen, Qing Chang, Dan-Dan Wang, Fang-Yuan Hu, Yu-He Qi, Wei Liu, Hao-Xiang Sun, Feng-Juan Gao, Shenghai Zhang, Jihong Wu, Wei Li, Ming Wang, Gezhi Xu, Jiankang Li |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Male retina Usher syndrome Visual Acuity Disease 0302 clinical medicine Gene Frequency USHER-SYNDROME Genotype Prevalence Missense mutation genetics Child Aged 80 and over Extracellular Matrix Proteins High-Throughput Nucleotide Sequencing Clinical Science Middle Aged Phenotype Sensory Systems Pedigree Child Preschool Cohort Female Usher Syndromes Retinitis Pigmentosa Tomography Optical Coherence Adult medicine.medical_specialty China Adolescent Mutation Missense Slit Lamp Microscopy 03 medical and health sciences Cellular and Molecular Neuroscience Asian People Internal medicine Retinitis pigmentosa SYNDROME TYPE IIA medicine otorhinolaryngologic diseases Humans Gene Genetic Association Studies Aged business.industry medicine.disease Ophthalmology 030104 developmental biology Mutation 030221 ophthalmology & optometry Visual Field Tests Visual Fields business |
| Zdroj: | The British Journal of Ophthalmology Gao, F-J, Wang, D-D, Chen, F, Sun, H-X, Hu, F-Y, Xu, P, Li, J, Liu, W, Qi, Y-H, Li, W, Wang, M, Zhang, S, Xu, G-Z, Chang, Q & Wu, J-H 2021, ' Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease ', British Journal of Ophthalmology, vol. 105, no. 1, pp. 87-92 . https://doi.org/10.1136/bjophthalmol-2020-315878 |
| ISSN: | 1468-2079 0007-1161 |
| DOI: | 10.1136/bjophthalmol-2020-315878 |
| Popis: | AimsTo investigate the frequency of USH2A mutation and the clinical and genetic differences between Usher syndrome type II (USH2) and retinitis pigmentosa (RP) in a large cohort of Chinese patients.MethodsA total of 1381 patients with inherited retinal disease (IRD) were recruited. The phenotypic and genotypic information of patients with USH2A mutations was evaluated.ResultsThe prevalence of patients with USH2A mutations was 15.75%, which was the most frequently detected gene in this cohort of patients. Hotspot of USH2A mutations was c.8559-2A >G and c.2802T >G. Patients with USH2 had an earlier and more serious decline of visual function and damage to retina structure than did patients with RP in the first 10 years (p0.05). Missense variants had less severe consequences and were found more commonly in RP, whereas more deleterious genotypes were associated with an earlier onset of disease and were found more commonly in USH2.ConclusionsThis study provides detailed clinical–genetic assessment of patients with USH2A mutations of Chinese origin, enabling precise genetic diagnoses, better management of these patients and putative therapeutic approaches. |
| Databáze: | OpenAIRE |
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