PDF(Pubmed)
Abstract：
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.
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.
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.
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.
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.
摘要：
背景：伴有语言缺失和癫痫发作的神经发育障碍（NEDALVS，＃618707）的特征是语音和运动发育延迟，眼部异常，和癫痫发作。NEDAVLS是由黄蜂蛋白家族成员1（WASF1）基因的从头突变引起的常染色体显性疾病。
方法：我们鉴定了从头无义变体c.1516C>T（p。WASF1基因（NM_003931.3）的Arg506*）在两名患有运动和语言发育迟缓的儿科女性患者中。
结论：该病例证明了WES在NEDALVS诊断中的有效作用。据我们所知,这种变异在中国人群中尚未报道.这有助于我们对该疾病的进一步了解以及与遗传和临床异质性相关的研究，疾病的治疗和预后。
方法：我们鉴定了从头无义变体c.1516C>T（p。WASF1基因（NM_003931.3）的Arg506*）在两名患有运动和语言发育迟缓的儿科女性患者中。
结论：该病例证明了WES在NEDALVS诊断中的有效作用。据我们所知,这种变异在中国人群中尚未报道.这有助于我们对该疾病的进一步了解以及与遗传和临床异质性相关的研究，疾病的治疗和预后。
