A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy

作者：Liu, Hong Yan^*; Huang, Jia; Wang, Rui Li; Wang, Yue; Guo, Liang Jie; Li, Tao; Wu, Dong; Wang, Hong Dan; Guo, Qian Nan; Dong, Dao Quan

来源：Journal of the Chinese Medical Association, 2016, 79(11): 633-638.

DOI：10.1016/j.jcma.2016.08.002

• Chinese
• familial exudative vitreoretinopathy
• mutation
• Norrie disease pseudoglioma
• X-linked

Familial exudative vitreoretinopathy (FENR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP) in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods. The coding exons 2 and 3 and their corresponding exon-intron junctions of NDP were amplified by polymerase chain reaction and then subjected to direct DNA sequencing. A novel missense mutation (c.310A>C) in exon 3, leading to a lysine-to-glutamine substitution at position 104 (p.Lys104Gln), was identified in all four patients with X-linked FEVR. Three unaffected female individuals (III2, IV3, and IV11) were found to be carriers of the mutation. This mutation was not detected in other unaffected individuals. The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with FEVR in the studied family. This result further enriches the mutation spectrum of FEVR.

• 出版日期2016-11
• 单位河北医科大学; 河南省人民医院; 郑州大学