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Article

Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis

1
Institute of Medical Innovation and Research, Peking University Third Hospital, Beijing 100191, China
2
Laboratory of Genomics and Molecular Biomedicine, Department of Biology, University of Copenhagen, 1550 Copenhagen, Denmark
3
Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Genes 2024, 15(6), 680; https://doi.org/10.3390/genes15060680
Submission received: 13 April 2024 / Revised: 21 May 2024 / Accepted: 22 May 2024 / Published: 24 May 2024
(This article belongs to the Special Issue Variations of Rare Genetic Diseases)

Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by progressive damage to both upper and lower motor neurons. Genetic factors are known to play a crucial role in ALS, as genetic studies not only advance our comprehension of disease mechanisms but also help unravel the complex phenotypes exhibited by patients. To gain further insights into the genetic landscape of ALS in the Chinese population and explore genotype–phenotype correlations among individuals, we conducted whole-genome sequencing to screen genes in 34 Chinese familial ALS (FALS) probands lacking the most common ALS-associated genes. Within this cohort, we identified a rare heterozygous missense mutation in the N-terminal domain of KIF5A (c.86A>G) in one of the probands. This finding is significant as mutations in the KIF5A gene have been implicated in ALS in European cohorts since 2018, predominantly characterized by C-terminal mutations. Analysis of the clinical phenotype within this familial lineage revealed a delayed onset of symptoms, an extended survival duration, and initial manifestations in both upper limbs. These observations underscore the clinical heterogeneity observed in ALS patients harboring KIF5A mutations. In conclusion, our study contributes to the growing body of evidence linking KIF5A to ALS and enhances our understanding of the intricate genetic landscape of this disease.
Keywords: amyotrophic lateral sclerosis; genetics; KIF5A; clinical neurology; neurogenetics amyotrophic lateral sclerosis; genetics; KIF5A; clinical neurology; neurogenetics

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MDPI and ACS Style

Wang, H.; Guan, L.; Ma, X.; Wang, Y.; Wang, J.; Zhang, P.; Deng, M. Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis. Genes 2024, 15, 680. https://doi.org/10.3390/genes15060680

AMA Style

Wang H, Guan L, Ma X, Wang Y, Wang J, Zhang P, Deng M. Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis. Genes. 2024; 15(6):680. https://doi.org/10.3390/genes15060680

Chicago/Turabian Style

Wang, Hui, Liping Guan, Xiaojuan Ma, Yiying Wang, Jinhao Wang, Peipei Zhang, and Min Deng. 2024. "Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis" Genes 15, no. 6: 680. https://doi.org/10.3390/genes15060680

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