Yun Bao1, Jingmin Yang2,3,4, Lu Chen5,6, Miaohong Chen5,6, Peiquan Zhao7, Shuiping Qiu5,6, Lu Zhang4, Guoming Zhang5,6. 1. Shanghai Center for Clinical Laboratory, Department of Molecular Biology, Shanghai, China. 2. NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, Chongqing, China. 3. State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China. 4. Department of Genetic Counselling, Shanghai WeHealth BioMedical Technology Co.,Ltd., Shanghai, China. 5. Shenzhen Eye Hospital, Shenzhen, China. 6. Shenzhen Key Ophthalmic Laboratory, Health Science Center, Shenzhen University, The Second Affiliated Hospital of Jinan University, Shenzhen, China. 7. Department of Ophthalmology, Xinhua Hospital, Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Abstract
Aims: To report a clinical and genetic investigation of a southern Chinese family with X-linked recessive exudative vitreoretinopathy and vitreous hemorrhage. Materials and Methods: We collected clinical data from a proband and his family. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was sampled from either peripheral blood or buccal swabs of 13 individuals, and whole exome sequencing was performed on the proband and his parents. Sanger sequencing was utilized to validate the probable mutation in the proband and the remaining family members. Results: Seventeen family members, with three affected individuals were included in this study. The predominant phenotypes, with highly variable expressivity, were vitreoretinopathy, vitreous hemorrhage, retinal detachment, and even phthisis. A Y53C mutation in the NDP gene (HGNC:7678; NM_000266.3:exon2:c.A158G:p.Y53C;NP_000257.1:p.Tyr53Cys) was identified as being the most probable pathogenic mutation. Co-segregation of the mutation with the variable phenotype was confirmed within the proband's family. Conclusions: The clinical appearance of familial exudative vitreoretinopathy was highly variable, among the three affected male family members. A novel missense mutation in the NDP gene was identified as the pathogenic mutation.
Aims: To report a clinical and genetic investigation of a southern Chinese family with X-linked recessive exudative vitreoretinopathy and vitreous hemorrhage. Materials and Methods: We collected clinical data from a proband and his family. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was sampled from either peripheral blood or buccal swabs of 13 individuals, and whole exome sequencing was performed on the proband and his parents. Sanger sequencing was utilized to validate the probable mutation in the proband and the remaining family members. Results: Seventeen family members, with three affected individuals were included in this study. The predominant phenotypes, with highly variable expressivity, were vitreoretinopathy, vitreous hemorrhage, retinal detachment, and even phthisis. A Y53C mutation in the NDP gene (HGNC:7678; NM_000266.3:exon2:c.A158G:p.Y53C;NP_000257.1:p.Tyr53Cys) was identified as being the most probable pathogenic mutation. Co-segregation of the mutation with the variable phenotype was confirmed within the proband's family. Conclusions: The clinical appearance of familial exudative vitreoretinopathy was highly variable, among the three affected male family members. A novel missense mutation in the NDP gene was identified as the pathogenic mutation.