What type of study is this?

This is a In Vitro Study study.

What question did this study set out to answer?

This research aims to identify the role of DNAH10 variants in skeletal developmental abnormalities and ciliary dysfunction.

May 7, 2026Journal of Medical Genetics

Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction

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Authors

RZRui ZhengSichuan University XDXinrong DuSichuan University YJYan JSichuan University

Discussion

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Implication

Whole-exome sequencing uncovered DNAH10 variants associated with polydactyly in individuals, suggesting impacts on osteoblasts and Hedgehog signalling.

Key Points

This research aims to identify the role of DNAH10 variants in skeletal developmental abnormalities and ciliary dysfunction.
Conducted whole-exome sequencing on individuals with skeletal developmental abnormalities
Performed in vitro assays to evaluate DNAH10 protein abundance
Developed Dnah10 knockout mice to study skeletal phenotypes
Identified biallelic DNAH10 variants in two individuals with skeletal abnormalities
Variants linked to reduced DNAH10 protein abundance in assays
Dnah10 knockout mice exhibited polydactyly, impaired cartilage development, and abnormal ossification

Cite This Study

Zheng et al. (2026) studied this question.

synapsesocial.com/papers/69fbe2b3164b5133a91a2234 https://doi.org/10.1136/jmg-2025-111109

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Implication

Whole-exome sequencing uncovered DNAH10 variants associated with polydactyly in individuals, suggesting impacts on osteoblasts and Hedgehog signalling.

Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction

Discussion

Member takes

Implication

Key Points

Cite This Study

Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction

Discussion

Member takes

Implication

Key Points

Cite This Study

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