关键词: 家族性渗出性玻璃体视网膜病变, NDP基因, 错义突变

Abstract:  Objective To identify the genetic defect causing X-linked recessive familial exudative vitreoretinopathy (FEVR) in a Chinese pedigree. Design Gene study. Participants A Chinese family with FEVR was enrolled. Methods  Mutation analyses of the candidate genes (LRP5, FZD4，TSPAN12 and NDP) was performed to detect the potential mutation by using polymerase chain reaction (PCR) and sanger sequencing. Main Outcome Measures Gene sequences. Results A novel hemizygous missense mutation G113D in exon 3 of NDP gene was cosegregated with the male proband in this family, and his mother was confirmed to be a obligate carrier, this change was not found in other family members and 50 normal unrelated individuals. Conclusion It is a novel missense mutation G113D of NDP gene that causes X-linked FEVR.

Key words: familial exudative vitreoretinopathy, NDP gene, missense mutation