Analysis of clinical features and EBF3 gene variant in a child with hypotonia, ataxia and developmental delay.
10.3760/cma.j.cn511374-20210221-00146
- VernacularTitle:一例肌张力减退-共济失调和发育迟缓综合征患儿的临床特征及
EBF3基因变异分析
- Author:
Yan CONG
1
;
Dong WANG
;
Hao WANG
;
Xia XU
;
Ke WU
Author Information
1. Department of Rehabilitation, Yiwu Maternity and Child Health Care Hospital, Yiwu, Zhejiang 322000, China. 754299058@qq.com.
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Ataxia/genetics*;
Intellectual Disability/genetics*;
Muscle Hypotonia/genetics*;
Mutation;
Syndrome;
Transcription Factors/genetics*;
Exome Sequencing;
Male
- From:
Chinese Journal of Medical Genetics
2022;39(11):1270-1274
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child featuring hypotonia, ataxia, and delayed development syndrome (HADDS).
METHODS:Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the child and his parents.
RESULTS:The child was found to harbor a de novo heterozygous c.625G>A (p.Arg209Trp) variant of the EBF3 gene, which has caused substitution of Arginine by Tryptophan. The variant may has impaired the binding affinity of EBF3 with DNA and altered its subcellular localization, and ultimately decreased the transcriptional activity of the EBF3 gene.
CONCLUSION:The c.625G>A variant of the EBF3 gene probably underlay the pathogenesis of HADDS in this child. Above finding has expanded the spectrum of EBF3 variants and enriched the clinical manifestations of the HADDS.
