6q25.3缺失致Coffin-Siris综合征1型1例

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

总结1例6q25.3缺失致Coffin-Siris综合征1型患儿的临床资料及基因突变特点。患儿为7岁6个月女童,有喂养困难、反复感染、语言及运动发育迟缓、智力低下、喉软骨发育不良等表现,浓眉、牙齿稀疏、背部多毛,伴多动及攻击性行为、癫痫发作、共济失调。先证者染色体核型分析未见异常;基因组拷贝数变异测序(CNV-seq)示染色体6q25.3区域存在约4.27 Mb杂合缺失,包含ARID1B基因在内的17个基因,其父母CNV-seq无异常。家系全外显子基因测序示先证者ARID1B基因第1~20外显子全部缺失,父母为野生型。先证者临床症状较重,单倍剂量不足是先证者的遗传学病因。

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.