Clinical features and genetic analysis of autosomal dominant mental retardation caused by TRIO gene mutations
10.3760/cma.j.cn113694-20240113-00030
- VernacularTitle:TRIO基因变异致常染色体显性遗传性智力发育障碍临床特点及遗传学分析
- Author:
Daoqi MEI
1
;
Jihong TANG
;
Yuan WANG
;
Li WANG
;
Ang MA
;
Jianmei GUO
;
Xiaoyi CHEN
Author Information
1. 苏州大学附属儿童医院神经内科，苏州215003
- Keywords:
Children;
Epilepsy;
Missense mutations;
TRIO gene;
Autosomal dominant intellectual disability
- From:
Chinese Journal of Neurology
2024;57(9):984-992
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summary the clinical phenotype and genotype characteristics of 2 cases of autosomal dominant mental retardation (MRD) caused by TRIO gene variation. Methods:Retrospective study of the clinical data of 2 cases of autosomal dominant MRD caused by TRIO gene mutations diagnosed at the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in April 2019 and January 2023 was conducted. The clinical features were summarized and gene analysis and follow-up were carried out. Results:The 2 patients were 6 years and 5 months old and 5 months old males, respectively. Clinical manifestations included seizures, cognitive and motor disorders, low intelligent development; case 1 had microcephaly, attention deficit disorder, ataxia, and aggressive behavior, and case 2 had macrocephaly. Brain magnetic resonance imaging revealed cerebellar atrophy in case 1, and non-specific dilation of the subarachnoid space and hypoplasia of the corpus callosum in case 2. Analysis of chromosome karyotype and chromosome copy number variation in 2 children showed no abnormalities. Whole exome sequencing revealed novel missense mutations in the TRIO gene in both patients [NM_007118:c.4289C>A(p.Thr1430Lys), c.4111C>A(p.His1371Asn), respectively]. The application of rehabilitation function training and a variety of anti-seizure medications can not fully and effectively control the seizure. Conclusion:TRIO gene c.4289C>A(p.Thr1430Lys), c.4111C>A(p.His1371Asn) de novo missense variants were the genetic etiology of the 2 probands,causing rare autosomal dominant MRD type 44 and 63.
