Research progress on phenotypic modifier genes in spinal muscular atrophy

PAN Wei; CAO Yan-Yan

doi:10.7499/j.issn.1008-8830.2410064

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Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (2) : 229-235. DOI: 10.7499/j.issn.1008-8830.2410064

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Research progress on phenotypic modifier genes in spinal muscular atrophy

PAN Wei, CAO Yan-Yan

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Abstract

Spinal muscular atrophy (SMA) is a common fatal autosomal recessive genetic disorder in childhood, primarily caused by homozygous deletion of the SMN1 gene. Its main characteristics include the degenerative changes in the anterior horn motor neurons of the spinal cord, leading to symmetrical progressive muscle weakness and atrophy of the proximal limbs. However, SMA patients with the same genetic background often exhibit different degrees of disease severity. In addition to the well-established modifier gene SMN2, the effect of other modifier genes on clinical phenotypes should not be overlooked. This paper reviews the latest advancements in the pathogenic and modifier genes of SMA, aiming to provide a deeper understanding of the pathogenic mechanisms and phenotypic differences in SMA, as well as to offer new strategies and targets for treating this condition.

Key words

Spinal muscular atrophy / Survival motor neuron 1 / Survival motor neuron 2 / Phenotypicmodifier gene

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PAN Wei, CAO Yan-Yan. Research progress on phenotypic modifier genes in spinal muscular atrophy[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(2): 229-235 https://doi.org/10.7499/j.issn.1008-8830.2410064

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