期刊论文

Tian, Q

英文

JOURNAL OF MEDICAL GENETICS

0022-2593

2024

61

3

262-269

10.1136/jmg-2023-109434

Contributors Conceptualisation: QT, PT, XC, KX, ZH; Data curation: QT, XC, YJ, ZC, LZ; Formal analysis: QT, XC, YJ, ZC; acquisition: QT, ZY, WL, KX, ZH; Investigation: QT, PT, YJ, ZC, LZ.; Methodology: QT, XC, YJ; Resources: QT, PT, XC, KX; Supervision: QT, KX, ZH; Visualisation: QT, XC, YJ; Writing—original draft: QT, XC, ZH; Writing—review and editing: QT, PT, XC, ZH. Guarantor: QT. This study was supported by the Key R&D Program of Hunan Province (grant number 2019SK2051, 2021SK1010), the National Natural Science Foundation of China (grant number 82271908, 82130043), the National Key R&D Program of China (grant number 2021YFA0805202), the Natural Science Foundation of Hunan Province (grant number 2021JJ40811).

本校为其他机构

BACKGROUND: High myopia (HM) refers to an eye refractive error exceeding -5.00 D, significantly elevating blindness risk. The underlying mechanism of HM remains elusive. Given the extensive genetic heterogeneity and vast genetic base opacity, it is imperative to identify more causative genes and explore their pathogenic roles in HM. METHODS: We employed exome sequencing to pinpoint the causal gene in an HM family. Sanger sequencing was used to confirm and analyse the gene mutations in this family and 200 sporadic HM cases. Single-cell RNA sequencing was conducted to evaluate the gene's express...