Frontiers in Cell and Developmental Biology (Jun 2021)

Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China

  • Yang Liu,
  • Jin-Jin Zhang,
  • Shun-Yu Piao,
  • Ren-Juan Shen,
  • Ya Ma,
  • Zhong-Qi Xue,
  • Wen Zhang,
  • Juan Liu,
  • Zi-Bing Jin,
  • Wen-Juan Zhuang

DOI
https://doi.org/10.3389/fcell.2021.645501
Journal volume & issue
Vol. 9

Abstract

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High myopia (HM) is one of the leading causes of visual impairment worldwide. In order to expand the myopia gene spectrum in the Chinese population, we investigated genetic mutations in a cohort of 27 families with HM from Northwest China by using whole-exome sequencing (WES). Genetic variations were filtered using bioinformatics tools and cosegregation analysis. A total of 201 candidate mutations were detected, and 139 were cosegregated with the disease in the families. Multistep analysis revealed four missense variants in four unrelated families, including c.904C>T (p.R302C) in CSMD1, c.860G>A (p.R287H) in PARP8, c.G848A (p.G283D) in ADAMTSL1, and c.686A>G (p.H229R) in FNDC3B. These mutations were rare or absent in the Exome Aggregation Consortium (ExAC), 1000 Genomes Project, and Genome Aggregation Database (gnomAD), indicating that they are new candidate disease-causing genes. Our findings not only expand the myopia gene spectrum but also provide reference information for further genetic study of heritable HM.

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