A case of Coffin-Siris syndrome type 1 due to 6q25.3 deletion

VernacularTitle:6q25.3缺失致Coffin-Siris综合征1型1例
Author: Daoqi MEI ¹ ; Shiyue MEI ; Yibing CHENG ; Li WANG ; Yuan WANG ; Guohong CHEN ; Jinghui KONG ; Bo ZHANG ; Zhixiao YANG ; Yaodong ZHANG ; Xiuan YANG
Author Information

1. 郑州大学附属儿童医院（河南省儿童医院　郑州儿童医院）东区神经内科，郑州　450018
Keywords: Coffin-Siris syndrome; ARID1B gene; Copy number variant
From: Chinese Journal of Neurology 2022;55(2):164-168
CountryChina
Language:Chinese
Abstract: Clinical data and genetic mutation characteristics of a patient with Coffin-Siris syndrome by 6q25.3 deletion were summarized. The child was a 7-year and 6-month old girl who had feeding difficulties, repeated infection, language and motor retardation, low intelligence, laryngeal cartilage dysplasia, thick eyebrows, sparse teeth, hairy back, hyperactivity and aggressive behavior, seizures and ataxia. There was no abnormality in chromosomal karyotype analysis by proband; genomic copy number variant sequencing (CNV-seq) indicated approximately 4.27 Mb heterozygous deletion in chromosome 6q25.3 region, with 17 genes including ARID1B gene, father maternal CNV-seq showing no abnormalities. Trio-whole-exome sequencing showed the proband missed all exons 1-20 of the ARID1B gene, with wild-type parents. The proband had severe clinical symptoms and haplodose insufficiency which was the genetic etiology.