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Article

Exome-wide association study identifies KDELR3 mutations in extreme myopia.

Nature communications - 7 Aug 2024

Yuan Jian, Zhuang You-Yuan, Liu Xiaoyu, Zhang Yue, Li Kai, Chen Zhen Ji, Li Dandan, Chen He, Liang Jiacheng, Yao Yinghao, Yu Xiangyi, Zhuo Ran, Zhao Fei, Zhou Xiangtian, Yu Xiaoguang, Qu Jia, Su Jianzhong

Abstract excerpt

Extreme myopia (EM), defined as a spherical equivalent (SE) ≤ -10.00 diopters (D), is one of the leading causes of sight impairment. Known EM-associated variants only explain limited risk and are inadequate for clinical decision-making. To discover risk genes, we performed a whole-exome sequencing (WES) on 449 EM individuals and 9606 controls. We find a significant excess of rare protein-truncating variants...

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Source

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Identifiers

PMID: 39112444
DOI: 10.1038/s41467-024-50580-x
PMCID: PMC11306401

Genes

KDELR3
PI16
SFRP4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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