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Article

A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.

Clinical genetics - 1 Apr 2025

Ning Haiping, Liang Cuili, Mei Huifen, Yuan Dejian, Wei Xiaobao, Huang Xiao, Tan Dongdong, Tan Jianqiang

Abstract excerpt

Osteogenesis imperfecta (OI) is a heterogeneous group of rare, inherited connective tissue disorders. It includes over 20 defined subtypes, each of which is associated with distinct causative genes that are listed in the Online Mendelian Inheritance in Man (OMIM) database. Type XXII OI (OI 22) is caused by a homozygous variant in the coiled-coil domain containing 134 (CCDC134) gene, which is located on chromosome...

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Identifiers

PMID: 39623602
DOI: 10.1111/cge.14664

Genes

CCDC134

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