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

BMC Medical Genomics

Case Report

Nong Xiao¹  Guoqing Liu¹  Xiang Tang¹  Li Lin¹  Yuxia Chen¹ 

[1]Department of Rehabilitation, Children’s Hospital of Chongqing Medical University, Chongqing, P.R. China

[2]Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, P.R. China

[3]National Clinical Research Center for Child Health and Disorders, Chongqing, P.R. China

[4]China International Science and Technology Cooperation base of Child development and Critical Disorders, Chongqing, P.R. China

[5]Children’s Hospital of Chongqing Medical University, Chongqing, P.R. China

[6]Chongqing Key Laboratory of Pediatric, Chongqing, P.R. China

关键词: WASF1 gene;    Developmental delay;    Absent language;    Whole-exome sequencing;    Case report;   

DOI  :  10.1186/s12920-023-01630-8

 received in 2022-12-02, accepted in 2023-08-11,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundNeurodevelopmental 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 presentationWe 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.ConclusionThis 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.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

【 图 表 】

Fig. 5

Scheme 1