Novel dominant-negative FOXJ1 mutation in a family with heterotaxy plus mouse model.

Lulu Li,Guocheng Shi,Xingyu Zhang, Teng Wang, Bo Wang,Yunqian Gao,Guoling You,Qihua Fu,Ying Xiang, Xiaoqing Zhang

Translational pediatrics（2023）

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摘要

Overall, our study results showed that c.1129delC mutation in was regarded as the cause of situs inversus in this family and this mutant showed a capacity of DNE over wild-type FOXJ1, causing more serious consequences than the allelic deletion of .

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关键词

FOXJ1, deletion mutation, dominant-negative effect, type 43 primary ciliary dyskinesia, congenital heart disease

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