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High-coverage paleo-genome research identifies a pathogenic mutation on EXT1 in a Qing-period Chinese individual with multiple osteochondromas.

Molecular genetics and genomics : MGG - 25 Jul 2026

Wang Bangyan, Chen Haodong, Xi Fanhao, Bao Haoquan, Wen Hetong, Du Panxin, Sun Chenshuang, Xiong Jianxue, Zhang Baoshuai, Chang Xin, Zhou Yawei, Wang Chuan-Chao, Wen Shaoqing

Abstract excerpt

Multiple osteochondromas (MO) is a rare bone disease with variable manifestations that make it difficult to distinguish from phenotypically similar diseases, both morphologically and radiologically. As a monogenic disorder associated with mutations in EXT1 or EXT2, ancient DNA analysis can provide genetically confirmed diagnoses and insights into the pathogenesis of suspected cases. To further investigate a...

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Identifiers

PMID: 42501091
DOI: 10.1007/s00438-026-02493-1

Genes

EXT1
EXT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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High-coverage paleo-genome research identifies a pathogenic mutation on EXT1 in a Qing-period Chinese individual with multiple osteochondromas.PMID 42501091Read ↗

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