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September 16, 2025GenesOpen Access

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review

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Case study reveals a novel splice-site variant in ATP7A causing overlapping distal hereditary motor neuropathy and occipital horn syndrome.

A novel ATP7A splice-site variant caused distal hereditary motor neuropathy and occipital horn syndrome in two brothers.
Both brothers exhibited overlapping symptoms, with chronic diarrhea often preceding neurological signs of dHMN.
Detailed evaluations included exome sequencing and RNA analysis to characterize the variant's effects on protein function.
The findings suggest ATP7A-related dHMN may be underdiagnosed and expand the known mutational spectrum of the gene.

Writzl et al. (2025) studied this question.

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Case study reveals a novel splice-site variant in ATP7A causing overlapping distal hereditary motor neuropathy and occipital horn syndrome.