Clinical features and genetic analysis of three children with mental retardation, language impairment and autistic features due to de novo variants of FOXP1 gene.
10.3760/cma.j.cn511374-20201213-00873
- VernacularTitle:三例
FOXP1基因新发变异导致智力发育迟缓、语言障碍和自闭特征患儿的临床特征与遗传学分析
- Author:
Ran HUA
1
;
Xiaoyan XU
;
Di WU
;
Li YANG
;
Jinjing YUAN
;
Jing ZHU
Author Information
1. Department of Pediatrics, Neurological Rehabilitation Center for Children, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China. yanzi10809@163.com.
- Publication Type:Journal Article
- MeSH:
Autistic Disorder/genetics*;
Child;
Forkhead Transcription Factors/genetics*;
Genetic Testing;
Humans;
Intellectual Disability/genetics*;
Language Development Disorders/genetics*;
Repressor Proteins/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(12):1194-1198
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical features and genetic basis of three children with mental retardation, language impairment and autistic features due to de novo variants of FOXP1 gene.
METHODS:Clinical data of the children were collected.Trio-whole exome sequencing was carried out for the children and their parents. Pathogenicity of the variants was analyzed through bioinformatics prediction.
RESULTS:All of the children had various degrees of mental retardation in conjunct with language deficit, global developmental delay, abnormal behavior and peculiar facial features, among whom two also developed autism spectrum disorders. The results of genetic testing showed that all three children harbored de novo variants of the FOXP1 gene, namely c.613_c.614delCTinsTA, c.1248delC and c.1393A>G. Two of these were frameshift variants and one was missense variant, which were all rated as pathogenic based on the guidelines of the American College of Medical Genetics (ACMG). Database search suggested that c.613_c.614delCTinsTA and c.1248delC were unreported previously.
CONCLUSION:For the three children from unrelated families with mental retardation in conjunct with language deficit, global growth delay, abnormal behavior and peculiar facial features, the c.613_ c. 614delCTinsTA, c.1248delC and c.1393A>G variants of the FOXP1 gene may be the pathogenic factors. Above cases have further expanded the genotype-phenotype profile of FOXP1 deficiency syndrome.
