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Article

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2015

Guo Hui, Tong Ping, Liu Yanling, Xia Lu, Wang Tianyun, Tian Qi, Li Ying, Hu Yiqiao, Zheng Yu, Jin Xuemin, Li Yunping, Xiong Wei, Tang Beisha, Feng Yong, Li Jiada, Pan Qian, Hu Zhengmao, Xia Kun

Abstract excerpt

PURPOSE: High myopia is one of the leading causes of blindness worldwide, with high heritability. However, only a few causative genes have been identified, and the pathogenesis is still unclear. Our aim was to identify a novel causative gene in a family with autosomal-dominant, nonsyndromic high myopia. METHODS: Whole-genome linkage and whole-exome sequencing were conducted on the family. Real-time quantitative...

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PMID: 25741866
DOI: 10.1038/gim.2015.28

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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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