A family study of autosomal dominant intellectual disability caused by pathogenic variations of the DYNC1H1 gene
10.3760/cma.j.cn101070-20240829-00550
- VernacularTitle:DYNC1H1基因致病性变异致常染色体显性遗传智力障碍一家系研究
- Author:
Haipo YANG
1
;
Hong PAN
;
Shuang WANG
;
Yidan LIU
;
Cuijie WEI
;
Yanbin FAN
;
Danyu SONG
;
Lin GE
;
Hui XIONG
Author Information
1. 北京大学第一医院儿童医学中心，北京 102699
- Publication Type:Journal Article
- Keywords:
Intellectual disability;
DYNC1H1 gene variant;
Epilepsy;
Electroencephalography
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(4):290-294
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze and summarize clinical phenotypic characteristics and genetic variations in patients with intellectual disability and pathogenic variations of the DYNC1H1 gene across 4 generations within a single family. Methods:Retrospective case analysis.Clinical data of a child with epilepsy and intellectual disability and her family members were collected from the Children′s Medical Center, Peking University First Hospital on December 2019.The child was followed up regularly.DNA was extracted from the peripheral blood of the child′s family members.Then whole-exome sequencing and Sanger sequencing were performed to identify the genetic variation type in the proband and her family members.The relationship between genotype and phenotype was further analyzed.Results:A total of 13 patients across 4 generations in the family had intellectual disability, and the proband also had drug-resistant epilepsy.The variation c. 13556C> A (p.A4519E) of the DYNC1H1 gene was confirmed by gene testing in 8 patients (no blood samples were obtained from the remaining patients). Conclusions:DYNC1H1 gene-related intellectual disability in most previously reported cases are caused by novel variations of this gene.In this study, a large family of 13 intellectual disability patients across 4 generations caused by a pathogenic mutation in the DYNC1H1 gene was summarized.The findings make precise genetic counseling possible for this family and provide a basis for further studies on the relationship between the genotype and phenotype of the DYNC1H1 gene.
