CHD3基因新发变异致Snijders Blok-Campeau综合征1例报告并文献复习

A case report of Snijders Blok-Campeau syndrome caused by a novel mutation of CHD3 gene and literature review

目的提高对Snijders Blok-Campeau综合征(SBCS)临床表型及基因型的认识。方法回顾分析1例SBCS患儿的临床资料、全外显子组及CNV-seq检测结果,检索CNKI、万方数据知识服务平台、PubMed中的相关文献并进行总结分析。结果患儿,女,13月龄,全面性发育迟缓,有特殊面容(眼裂小、眼距宽、鼻梁宽、眉毛稀疏、耳位低)。全外显子组及CNV-seq检测发现患儿CHD 3基因存在错义变异c.3709T>C(p.F 1237L),经双亲验证为新生变异,未在HGMD、ClinVar数据库中收录,与SBCS相关。检索到SBCS相关文献4篇共61例患者,47例为新发变异,多为错义变异。患者的临床表型相似,主要表现为发育迟缓、智力障碍、言语迟缓、张力减退和独特面部特征。结论发现致SBCS新的CHD 3基因c.3709T>C变异。多种CHD 3基因变异可致SBCS,面部特征和基因检测有助于诊断。

Objective To improve the understanding of clinical phenotype and genotype of Snijders Blok-Campeau syndrome.Methods Clinical data,whole exome sequencing and CNV-Seq results of a case of Snijders Blok-Campeau syndrome were retrospectively analyzed;and relevant literatures in CNKI,Wanfang data knowledge service platforms and PubMed were summarized and analyzed.Results A 13-month old girl presented with comprehensive developmental delays,small palpebral fissure,ocular hypertelorism,wide bridge of the nose,sparse eyebrows and low ear-setExome,sequencing and CNV-Seq test found a de novo missense variant of c.3709T>C(p.F1237L)in CHD3 gene,which has not been reported in the Human Gene Mutation Database and ClinVar.A total of 61 patients with Snijders Blok-Campeau syndrome were found in literatures and 47 patients were found with de novo mutations,and most of which were missense mutations.The common clinical phenotypes of the patients are developmental retardation,mental retardation,speech retardation,hypotonia and unique facial features.Conclusion A novel variant of c.3709T>C in CHD 3 gene that causes Snijders Blok-Campeau syndrome was identified.A variety of CHD 3 gene variants can lead to Snijders Blok-Campeau syndrome,the patient's unique facial features and genetic testing can contribute to the diagnosis.