ArticleHuman genome variation2025
Association of novel ERLIN2 gene variants with hereditary spastic paraplegia.
Article in Human genome variation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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9 authors.
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Abstract
Two ERLIN2 variants (NM_007175.8:c.660delA and NM_007175.8:c.869C>T) were detected in a Spanish patient with hereditary spastic paraplegia via whole-exome sequencing and software-based pathogenic variant selection. Segregation analysis revealed that the patient's two affected siblings carried both variants, whereas their offspring, carrying only one variant, were asymptomatic, indicating the autosomal recessive nature of the disease. These findings suggest that the identified variants can be classified as pathogenic when they are present as compound heterozygous variants.
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