Dnah14-KO Mouse

DNAH14, whose full name might not be explicitly given in the provided references, is a gene with potential significance in multiple biological contexts. While its exact core function isn't clearly defined in the references, it has been associated with cilia-related functions considering its appearance in studies of primary ciliary dyskinesia (PCD) [2,3]. Cilia are important cellular structures involved in functions like mucociliary clearance, and genes related to cilia can impact various physiological processes.

In a study, compound heterozygous DNAH14 variants were identified in three unrelated patients, leading to a spectrum of neurological and developmental phenotypes such as seizures, global developmental delay, microcephaly, and hypotonia, suggesting its role in neurodevelopmental disorders (NDD) [1]. Also, an association of DNAH14 with PCD was observed, expanding the PCD genotypic spectrum [2]. In cystic fibrosis, variants in DNAH14 were associated with both poor and preserved lung function, indicating its role in lung-related physiological processes [4].

In conclusion, DNAH14 appears to be involved in important biological processes, particularly in neurodevelopment and cilia-related functions which can impact diseases like NDD and PCD. The identification of its variants in association with these disease conditions provides valuable insights into the underlying genetic mechanisms, potentially guiding future research and diagnostic strategies.

References:

1. Li, Juan, Yuan, Yu, Liu, Chaorong, Mao, Xiao, Long, Lili. 2022. DNAH14 variants are associated with neurodevelopmental disorders. In Human mutation, 43, 940-949. doi:10.1002/humu.24386. https://pubmed.ncbi.nlm.nih.gov/35438214/

2. Guan, Yuhong, Yang, Haiming, Yao, Xingfeng, Ge, Wentong, Ni, Xin. 2021. Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China. In Chest, 159, 1768-1781. doi:10.1016/j.chest.2021.02.006. https://pubmed.ncbi.nlm.nih.gov/33577779/

3. Jat, Kana Ram, Faruq, Mohammed, Jindal, Shishir, Arava, Sudheer K, Kabra, Sushil K. 2024. Genetics of 67 patients of suspected primary ciliary dyskinesia from India. In Clinical genetics, 106, 650-658. doi:10.1111/cge.14590. https://pubmed.ncbi.nlm.nih.gov/39004944/

4. Blue, Elizabeth, Louie, Tin L, Chong, Jessica X, Bamshad, Michael J, Emond, Mary J. . Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. In Annals of the American Thoracic Society, 15, 440-448. doi:10.1513/AnnalsATS.201706-451OC. https://pubmed.ncbi.nlm.nih.gov/29323929/