Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

被引:0
作者
Feiyin Zi
Zhen Li
Wanyu Cheng
Xiaoyu Huang
Xunlun Sheng
Weining Rong
机构
[1] Ningxia Medical University,Clinical Medical College
[2] Ningxia Eye Hospital,Department of Ophthalmology
[3] People’s Hospital of Ningxia Hui Autonomous Region,undefined
[4] Third Clinical Medical College of Ningxia Medical University,undefined
[5] Gansu Aier Ophthalmiology and Optometry Hospital,undefined
来源
BMC Medical Genomics | / 16卷
关键词
Early-onset high myopia; X-linked recessive inheritance; Genetic variant; Clinical phenotype;
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[1]  
Morgan IG(2012)Global prevalence of myopia and high myopia and temporal Trends from 2000 through 2050 Myopia Lancet 379 1739-48
[2]  
Ohno-Matsui K(2016)Focus on genetic diagnosis of early-onset high myopia Ophthalmology 123 1036-42
[3]  
Saw SM(2022)Potential lost Productivity resulting from the global burden of myopia: systematic review, Meta-analysis, and modeling Chin J Experimental Ophthalmol 03 193-8
[4]  
Holden BA(2019)Exome sequencing identifies ZNF644 mutations in high myopia Ophthalmology 126 338-46
[5]  
Fricke TR(2011)Mutations in SCO2 are associated with autosomal-dominant high-grade myopia PLoS Genet 7 e1002084-6
[6]  
Wilson DA(2013)Exome sequencing reveals CCDC111 mutation associated with high myopia Am J Hum Genet 92 820-41
[7]  
Jong M(2021)Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia c J Cell Mol Med 25 8432-21
[8]  
Naidoo KS(2013)Mutational screening of AGRN, SLC39A5, SCO2, P4HA2, BSG, ZNF644, and CPSF1 in a Chinese cohort of 103 patients with nonsyndromic high myopia Hum Genet 132 913-6
[9]  
Sankaridurg P(2015)CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection Genet Med 17 300-17
[10]  
Wong TY(2021)Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia Mol Vis 27 706-70