title: A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.
abstract: Familial exudative vitreoretinopathy (FEVR) 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.
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China. Electronic address: liuhongyanqhhy@126.com.
authors.forename: Hong Yan
authors.initials: HY
authors.lastname: Liu
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Huang
authors.affiliation: Department of Ultrasonography, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
authors.forename: Rui Li
authors.initials: RL
authors.lastname: Wang
authors.affiliation: Department of Gynecology and Obstetrics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
authors.forename: Liang Jie
authors.initials: LJ
authors.lastname: Guo
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Wu
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
authors.forename: Hong Dan
authors.initials: HD
authors.lastname: Wang
authors.affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
authors.forename: Qian Nan
authors.initials: QN
authors.lastname: Guo
authors.affiliation: Department of Medical Eye Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
authors.forename: Dao Quan
authors.initials: DQ
authors.lastname: Dong
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002675:Child, Preschool; D015785:Eye Diseases, Hereditary; D005136:Eye Proteins / Q000235:genetics*; D000080345:Familial Exudative Vitreoretinopathies; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins
keywords: Chinese; Norrie disease pseudoglioma; X-linked; familial exudative vitreoretinopathy; mutation