Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene.
10.3760/cma.j.cn511374-20220113-00032
- VernacularTitle:CTCF基因变异所致精神发育迟滞21型2例患儿的临床特征及遗传学分析
- Author:
Yuqiang LYU
1
;
Fengling SONG
;
Kaihui ZHANG
;
Min GAO
;
Jian MA
;
Dong WANG
;
Ya WAN
;
Yi LIU
;
Zhongtao GAI
Author Information
1. Jinan Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Developmental Disabilities/genetics*;
High-Throughput Nucleotide Sequencing;
Intellectual Disability/genetics*;
Karyotyping;
Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(5):543-546
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic characteristics of two children with developmental delay.
METHODS:Two children who had presented at the Children's Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children.
RESULTS:Both children had a 46,XX karyotype. High-throughput sequencing showed that they have respectively carried a c.489delG (p.Q165Rfs*14) and a c.1157_1158delAT (p.Y386Cfs*22) frameshifting variant of the CTCF gene, both had a de novo origin and were unreported previously.
CONCLUSION:The CTCF gene variants probably underlay the development delay in the two children. Above discovery has enriched the mutational spectrum of the CTCF gene and has important implications for revealing the genotype-phenotype correlation for similar patients.
