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

作者全名："Tang, Xiang; Liu, Guoqing; Lin, Li; Xiao, Nong; Chen, Yuxia"

作者地址："[Tang, Xiang; Liu, Guoqing; Lin, Li; Xiao, Nong; Chen, Yuxia] Chongqing Med Univ, Childrens Hosp, Dept Rehabil, Chongqing, Peoples R China; [Tang, Xiang; Liu, Guoqing; Lin, Li; Xiao, Nong; Chen, Yuxia] Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China; [Tang, Xiang; Liu, Guoqing; Lin, Li; Xiao, Nong; Chen, Yuxia] Natl Clin Res Ctr Child Hlth & Disorders, Chongqing, Peoples R China; [Tang, Xiang; Liu, Guoqing; Lin, Li; Xiao, Nong; Chen, Yuxia] China Int Sci & Technol Cooperat base Child Dev &, Chongqing, Peoples R China; [Tang, Xiang; Liu, Guoqing; Lin, Li; Xiao, Nong; Chen, Yuxia] Chongqing Med Univ, Childrens Hosp, Chongqing, Peoples R China; [Tang, Xiang; Liu, Guoqing; Lin, Li; Xiao, Nong; Chen, Yuxia] Chongqing Key Lab Pediat, Chongqing, Peoples R China"

通信作者："Chen, YX (通讯作者)，Chongqing Med Univ, Childrens Hosp, Dept Rehabil, Chongqing, Peoples R China.; Chen, YX (通讯作者)，Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China.; Chen, YX (通讯作者)，Natl Clin Res Ctr Child Hlth & Disorders, Chongqing, Peoples R China.; Chen, YX (通讯作者)，China Int Sci & Technol Cooperat base Child Dev &, Chongqing, Peoples R China.; Chen, YX (通讯作者)，Chongqing Med Univ, Childrens Hosp, Chongqing, Peoples R China.; Chen, YX (通讯作者)，Chongqing Key Lab Pediat, Chongqing, Peoples R China."

来源：BMC MEDICAL GENOMICS

ESI学科分类：MOLECULAR BIOLOGY & GENETICS

WOS号：WOS:001056869000001

JCR分区：Q3

影响因子：2.1

年份：2023

卷号：16

期号：1

开始页：　

结束页：　

文献类型：Review

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

摘要："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."

基金机构：We are grateful to the patients and their families for participation in the study. We would also like to thank the technical support from Chigene (Beijing) Translational Medical Research Center Co. Ltd.; (Beijing) Translational Medical Research Center Co. Ltd.

基金资助正文：We are grateful to the patients and their families for participation in the study. We would also like to thank the technical support from Chigene (Beijing) Translational Medical Research Center Co. Ltd.