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Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.

Molecular genetics and genomics : MGG - 1 May 2023

Ye Min, Ma Ya, Qin Yi-Xuan, Cai Bo, Ma Li-Mei, Ma Zhen, Liu Yang, Jin Zi-Bing, Zhuang Wen-Juan

Abstract excerpt

High myopia (HM) is a leading cause of visual impairment in the world. To expand the genotypic and phenotypic spectra of HM in the Chinese population, we investigated genetic variations in a cohort of 113 families with nonsyndromic early-onset high myopia from northwestern China by whole-exome sequencing, with focus on 17 known genes. Sixteen potentially pathogenic variants predicted to affect protein function in...

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Adolescent
Child
Child, Preschool
China
Genotype

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PMID: 36964802
DOI: 10.1007/s00438-023-02003-7

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