Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt
Abstract 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...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-07-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-025-00755-y |
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| Summary: | Abstract 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. |
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| ISSN: | 2090-2441 |