Clinical phenotypic analysis of two new mutations of EYS gene in Chinese retinitis pigmentosa
Objective To analyze the new EYS gene mutations and the relationship between mutation types and clinical phenotypic characteristics of two Chinese retinitis pigmentosa(RP)families using target region sequencing technology.Methods A total of 6 people from two pedigrees that was diagnosed with retinitis pigmentosa in He University Eye Hospital in October 2018.After collecting 5 ml of peripheral blood of all subjects,DNA was extracted.Target region sequencing and Sanger sequencing were performed to identify gene variants and further analyze the specific clinical phenotype of the gene variants.Results In two families,there were 2 patients and 4 normal phenotypic family members.Genetic testing revealed that two missense heterozygous mutations of EYS gene c.3489T>A and c.5852C>T were found in 1 case of retinitis pigmented disease.2 gene mutations of EYS gene,c.6557G>A and c.8153C>A,were found in another retinitis pigmented disease family,which were confirmed as compound heterozygous mutations by family co-isolation.In both families,the onset age of night blindness was advanced and the vision was extremely poor.Conclusion This study reports two new mutations of c.8153C>A and c.5852C>T in EYS gene in 2 Chinese autosomal recessive retinitis pigmentosa(ARRP)families,which expands the gene profile and new clinical phenotype of retinitis pigmentosa.Optical coherence tomography angiography(OCT-A)examination is helpful to assess the degree of atrophy of the choroidal capillaries in the macular subfovea and indirectly assessing the progression of the disease.
Chinese retinitis pigmentosa familiesEYS geneNew mutationsNext generation sequencing
万方数据
维普
