Abstract Background Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, # 618707) are characterized by delayed speech and motor development, ocular abnormalities, and seizures.NEDAVLS is an autosomal dominant disorder caused by de novo mutations in the wasp protein family member 1 (WASF1) gene.Case presentation We identified a de novo nonsense variant c.
1516 C > T (p.Arg506*) of WASF1 LEMONGRASS LIME BW gene (NM_003931.3) in two pediatric female patients with delayed motor and language development.
Conclusion This case Console Mast Bracket;Left demonstrates the effective role of WES in the diagnosis of NEDALVS.To the best of our knowledge, this variant has not been reported in the Chinese population.This contributes to our further understanding of the disease and to research related to the genetic and clinical heterogeneity, the treatment and prognosis of the disease.