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Background <p>Giant axonal neuropathy (GAN) is a rare inherited neurodegenerative disease that affects the peripheral and central nervous systems. Herein, we describe three Egyptian siblings with GAN who showed differences in clinical severity.</p> <p>Case Presentation.</p> <p>Case 1 had slowly progressive sensorimotor polyneuropathy starting from 6&#xa0;years of age with lack of remarkable central nervous system (CNS) involvement till age of 14&#xa0;years. In contrast, case 2 showed early-onset neurodevelopmental delay, rapidly progressive course, and significant CNS manifestations. Case 3 had an intermediate phenotype. The extent of brain imaging abnormalities paralleled the clinical severity as case 1 had only moderate white matter changes while case 2 showed extensive white matter lesions, ventriculomegaly, and atrophic changes. Whole-exome sequencing revealed a novel homozygous nonsense <i>GAN</i> variant c.918G &gt; A (p.Trp306Ter).</p> Conclusion <p>This is the first case report of GAN from Egyptian populations, which expands the spectrum of disease-causing variants in the <i>GAN</i> gene and underscores the clinical heterogeneity of this disease even among patients sharing the same genotype and environmental conditions.</p>

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Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt

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  • 发表日期：

    2025年7月30日

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  • Abdelrahim A. Sadek,
  • Mohammed A. Aladawy,
  • Tarek M. M. Mansour,
  • Ali Farag El Hadad,
  • Abd Elaziz Shokry,
  • Rin Khang,
  • Seung Woo Ryu,
  • Elsayed Abdelkreem

摘要

Background

Giant axonal neuropathy (GAN) is a rare inherited neurodegenerative disease that affects the peripheral and central nervous systems. Herein, we describe three Egyptian siblings with GAN who showed differences in clinical severity.

Case Presentation.

Case 1 had slowly progressive sensorimotor polyneuropathy starting from 6 years of age with lack of remarkable central nervous system (CNS) involvement till age of 14 years. In contrast, case 2 showed early-onset neurodevelopmental delay, rapidly progressive course, and significant CNS manifestations. Case 3 had an intermediate phenotype. The extent of brain imaging abnormalities paralleled the clinical severity as case 1 had only moderate white matter changes while case 2 showed extensive white matter lesions, ventriculomegaly, and atrophic changes. Whole-exome sequencing revealed a novel homozygous nonsense GAN variant c.918G > A (p.Trp306Ter).

Conclusion

This is the first case report of GAN from Egyptian populations, which expands the spectrum of disease-causing variants in the GAN gene and underscores the clinical heterogeneity of this disease even among patients sharing the same genotype and environmental conditions.