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<p>To investigate a novel NIMA Related Kinase 1 <i>(NEK1)</i> frameshift mutation in amyotrophic lateral sclerosis (ALS), assess its pathogenicity using computational algorithms and genetic databases, and analyze the clinical manifestations of cases carrying the <i>NEK1</i> genetic mutation.&#xa0;A 65-year-old man with sporadic ALS (sALS) carrying a <i>NEK1</i> c.2413dup (p.Thr805Asnfs*7) mutation was studied. Clinical and genetic data were evaluated using Mutation Taster and ACMG guidelines. A literature review was conducted in PubMed and CNKI to identify ALS cases with <i>NEK1</i> mutations.&#xa0;Whole-exome sequencing identified a <i>NEK1</i> mutation, c.2413dup (p.Thr805Asnfs*7),which is predicted to lead to a truncated protein. A literature review found 19 articles covering 89 mutation sites. Among the recorded cases, sex was reported for 79 cases (47 male,32 female), and age of onset was available for 80 cases, with an average of 56.94 ± 11.88 years. Onset type data were available for 77 cases, of which 49.35% (38/77) had lower motor neuron onset,41.56% (32/77) had upper motor neuron onset, and 9.09% (7/77) had both. Among those with lower motor neuron onset (<i>n</i> = 38),28.95% (11/38) had bulbar onset, and 2.63% (1/38) had respiratory onset.&#xa0;The c.2413dup (p.Thr805Asnfs*7) frameshift mutation in the <i>NEK1</i> gene is likely pathogenic and may contribute to the onset of ALS. ALS associated with <i>NEK1</i> mutations appears to be more common in men than women and typically affects individuals in late middle age.</p>

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A novel frameshift mutation in the NEK1 gene causing amyotrophic lateral sclerosis: A case report and literature review

  • 期刊论文

  • 发表日期：

    2025年10月27日

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  • DeLi Yang,
  • XiaoYang Lei,
  • Lang Yang,
  • Dian He

摘要

To investigate a novel NIMA Related Kinase 1 (NEK1) frameshift mutation in amyotrophic lateral sclerosis (ALS), assess its pathogenicity using computational algorithms and genetic databases, and analyze the clinical manifestations of cases carrying the NEK1 genetic mutation. A 65-year-old man with sporadic ALS (sALS) carrying a NEK1 c.2413dup (p.Thr805Asnfs*7) mutation was studied. Clinical and genetic data were evaluated using Mutation Taster and ACMG guidelines. A literature review was conducted in PubMed and CNKI to identify ALS cases with NEK1 mutations. Whole-exome sequencing identified a NEK1 mutation, c.2413dup (p.Thr805Asnfs*7),which is predicted to lead to a truncated protein. A literature review found 19 articles covering 89 mutation sites. Among the recorded cases, sex was reported for 79 cases (47 male,32 female), and age of onset was available for 80 cases, with an average of 56.94 ± 11.88 years. Onset type data were available for 77 cases, of which 49.35% (38/77) had lower motor neuron onset,41.56% (32/77) had upper motor neuron onset, and 9.09% (7/77) had both. Among those with lower motor neuron onset (n = 38),28.95% (11/38) had bulbar onset, and 2.63% (1/38) had respiratory onset. The c.2413dup (p.Thr805Asnfs*7) frameshift mutation in the NEK1 gene is likely pathogenic and may contribute to the onset of ALS. ALS associated with NEK1 mutations appears to be more common in men than women and typically affects individuals in late middle age.