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DNAH14 variants are associated with neurodevelopmental disorders
Juan Li1,2,3, Yu Yuan1,2,3, Chaorong Liu1,2,3
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Human Mutation
|April 19, 2022
Summary
Genetic variants in the DNAH14 gene are linked to neurodevelopmental disorders (NDDs). This study identified novel DNAH14 variants in three patients, suggesting its role in previously unrecognized NDDs.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- Neurodevelopmental disorders (NDDs) are complex genetic and environmental diseases.
- Advancements in sequencing technologies enable the identification of novel disease-associated genes.
- Understanding the genetic basis of NDDs is crucial for diagnosis and treatment.
Purpose of the Study:
- To identify novel genes associated with neurodevelopmental disorders.
- To investigate the role of DNAH14 variants in NDDs.
- To characterize the clinical and genetic features of patients with DNAH14 variants.
Main Methods:
- Trio whole-exome sequencing was employed to identify potential NDD-associated variants.
- Genetic variants were analyzed in three unrelated patients presenting with NDD phenotypes.
- Bioinformatics tools and population databases (gnomAD) were used to assess variant pathogenicity and frequency.
Main Results:
- Three unrelated patients with compound heterozygous DNAH14 variants were identified.
- Identified variants included one nonsense, one frameshift, and four missense variants, with low frequencies in gnomAD.
- Affected DNAH14 variants were predicted as damaging and located in critical functional domains (AAA+ ATPase, C-terminal).
- Patients exhibited a spectrum of neurological and developmental phenotypes, including seizures, global developmental delay, microcephaly, and hypotonia.
Conclusions:
- Variants in the DNAH14 gene are associated with previously unrecognized neurodevelopmental disorders.
- DNAH14 plays a significant role in neurodevelopment, and its variants can lead to severe clinical manifestations.
- Further research into DNAH14 function is warranted to understand its contribution to NDDs.
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