Why the study?
Autism spectrum disorder exhibits significant genetic heterogeneity with SCN2A identified as an important risk gene.
This case report expands the phenotypic spectrum of SCN2A mutations by describing a novel variant causing ASD without comorbid epilepsy.
Should not yet change ASD practice or counseling; leaves open SCN2A convergence on shared pathways pending functional validation.
Autism spectrum disorder (ASD) exhibits significant genetic heterogeneity, and a large number of risk genes may eventually converge on a limited number of common pathways. Among them, SCN2A, which encodes the Nav1.2α subunit of the voltage-gated sodium channel, is one of the important risk genes. This article reports a case of ASD caused by a novel mutation in SCN2A. The patient is a 6-year-old female, with the main clinical manifestations being language development delay and social communication disorders, but without epilepsy. Whole-exome sequencing revealed that she carried a heterozygous variant in the SCN2A c.4023_4077del (p.Val1343Alafs*17). This case enriches the ASD phenotype spectrum related to the SCN2A, especially providing a clinical example without comorbid epilepsy.
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Gao et al. (2026) studied this question.
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