{"id":2184,"date":"2026-05-09T00:21:51","date_gmt":"2026-05-09T00:21:51","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2184"},"modified":"2026-05-09T00:21:51","modified_gmt":"2026-05-09T00:21:51","slug":"biallelic-variants-in-dnah10-are-associated-with-skeletalf-developmental-abnormalities-and-ciliary-dysfunction-contributed-by-rui-zheng","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/05\/09\/biallelic-variants-in-dnah10-are-associated-with-skeletalf-developmental-abnormalities-and-ciliary-dysfunction-contributed-by-rui-zheng\/","title":{"rendered":"Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction (Contributed by Rui Zheng)"},"content":{"rendered":"

Primary cilia are tiny hair-like structures on many cells that act as antennae, helping cells receive signals needed for normal development. In this study, we identified DNAH10 variants in two children with skeletal abnormalities, including thumb defects and changes in the ribs or spine. Using cell experiments and a mouse model, we found that loss of DNAH10 disrupts primary cilia, weakens Hedgehog signaling, and impairs normal bone and cartilage development. These findings expand the known role of DNAH10 from motile cilia and sperm flagella to primary cilia, and suggest that DNAH10 may contribute to skeletal developmental disorders. (https:\/\/jmg.bmj.com\/content\/early\/2026\/05\/05\/jmg-2025-111109<\/a>)<\/p>\n

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Primary cilia are tiny hair-like structures on many cells that act as antennae, helping cells receive signals needed for normal development. In this study, we identified DNAH10 variants in two children with skeletal abnormalities, including thumb defects and changes in the ribs or spine. Using cell experiments and a mouse model, we found that loss […]<\/p>\n

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