A Novel Mutation in the Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family.

To report a clinical and genetic investigation of a southern Chinese family with X-linked recessive exudative vitreoretinopathy and vitreous hemorrhage. 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. 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. 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.