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Ophthalmic Genetics Volume 41, 2020 - Issue 4
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Mutation Reports

A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease

Meina LinNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, ChinaView further author information
,
Yongping LuNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, ChinaView further author information
,
Yu SuiNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, ChinaView further author information
,
Xiang NiNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, ChinaView further author information
,
Huan LiNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, ChinaView further author information
,
Xinren ChenNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, ChinaView further author information
,
Ning ZhaoNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, ChinaView further author information
&
Miao JiangNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, ChinaCorrespondence[email protected]
View further author information
 show all
Pages 338-340 | Received 10 Sep 2019, Accepted 12 Apr 2020, Published online: 12 May 2020

References

  • Fangting L, Lvzhen H, Xiaoxin L. A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease. Acta Ophthalmol. 2016;94(6):e516–7. doi:10.1111/aos.12904.
  • Liu D, Hu Z, Peng Y, Yu C, Liu Y, Mo X, Li X, Lu L, Xu X, Su W, et al. A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease. Mol Vis. 2010;16:2653–58.
  • Parzefall T, Lucas T, Ritter M, Ludwig M, Ramsebner R, Frohne A, Schöfer C, Hengstschläger M, Frei K. A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an Austrian family with norrie disease. Audiol Neurootol. 2014;19(3):203–09. doi:10.1159/000358866.
  • Talebi F, Ghanbari Mardasi F, Mohammadi Asl J, Lashgari A, Farhadi F. Identification of a novel missense mutation in the norrie disease gene: the first molecular genetic analysis and prenatal diagnosis of norrie disease in an iranian family. Cell J. 2018;20(2):290–92. doi:10.22074/cellj.2018.5090.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405–24. doi:10.1038/gim.2015.30.
  • Liu HY, Huang J, Wang RL, Wang Y, Guo LJ, Li T, Wu D, Wang HD, Guo QN, Dong DQ, et al. A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy. J Chin Med Assoc. 2016;79(11):633–38. doi:10.1016/j.jcma.2016.08.002.
  • Meindl A, Berger W, Meitinger T, van de Pol D, Achatz H, Dörner C, Haasemann M, Hellebrand H, Gal A, Cremers F, et al. Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins. Nat Genet. 1992;2(2):139–43. doi:10.1038/ng1092-139.
  • Black GC, Perveen R, Bonshek R, Cahill M, Clayton-Smith J, Lloyd IC, McLeod D. Coats’ disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum Mol Genet. 1999;8(11):2031–35. doi:10.1093/hmg/8.11.2031.

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