Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review

• DOI: 10.3389/fneur.2023.1251467
• Publication Date: 2023-11-24T09:14:45Z
• Authors: Hui Zhu; Shuyao Zhu; Qiong Jiang; Ying Pang; Yu Huang; Yan Chen; Ting Hou; Wenxin Deng; Xingyu Liu; Lan Zeng; Ai Chen; Jin Wang; Zemin Luo
• Keywords: Global developmental delay; Exome; Neurodevelopmental disorder

Vulto-van Silfhout-de Vries syndrome (VSVS; MIM 615828) is an extremely rare autosomal dominant disorder with unknown incidence. It always caused by de novo heterozygous pathogenic variants in the DEAF1 gene, which encodes deformed epidermal autoregulatory factor-1 homology. VSVS characterized mild to severe intellectual disability (ID) and/or global developmental delay (GDD), seriously limited language expression, behavioral abnormalities, somnipathy, and reduced pain sensitivity. In this study, we present a Chinese boy moderate GDD ID, expressive impairment, issues, autism spectrum (ASD), sleeping dysfunction, high threshold, generalized seizures, imbalanced gait, recurrent respiratory infections as clinical features. A missense variant was found 5th exon of NM_021008.4 c.782G>C (p. Arg261Pro) whole exome sequencing (WES). had not been previously reported genomic databases literature. According ACMG criteria, considered be “Likely Pathogenic”. We diagnosed both genetically clinically. At follow-up 2.1 years, his seizures were well controlled after valproic acid therapy. addition, child’s improved at 3.5 years age, has previous individuals. Maybe like sleep problems literature are permanent but may improve naturally over time. The review showed that there 35 individuals 28 different -related VSVS. These mostly manifestations similar our patient. Our study expands genotypic phenotypic profiles .