DOAJ Open Access 2023

The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures

Xiang Tang Guoqing Liu Li Lin Nong Xiao Yuxia Chen

Abstrak

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 gene (NM_003931.3) in two pediatric female patients with delayed motor and language development. Conclusion This case 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.

Topik & Kata Kunci

Internal medicine Genetics

Penulis (5)

Xiang Tang

Guoqing Liu

Li Lin

Nong Xiao

Yuxia Chen

Format Sitasi

APA MLA BibTeX

Tang, X., Liu, G., Lin, L., Xiao, N., Chen, Y. (2023). The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures. https://doi.org/10.1186/s12920-023-01630-8

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Informasi Jurnal

Tahun Terbit: 2023
Sumber Database: DOAJ
DOI: 10.1186/s12920-023-01630-8
Akses: Open Access ✓