SOX11基因变异致Coffin-Siris综合征9型1例报道

A case report of SOX11 gene mutation resulting in Coffin-Siris syndrome type 9

目的分析Coffin-Siris综合征9型的临床及基因变异特征。方法回顾性分析1例Coffin-Siris综合征9型患儿的临床资料,对该家系进行临床和遗传学分析,并复习相关文献。结果患儿,女,9岁9月,因身高增长缓慢9年、言语倒退4年就诊。患儿精神发育迟滞,头颅核磁检查可见颅底凹陷,并伴生长激素缺乏症。全外显子基因检测显示患儿SOX11基因存在c.171G>T位点1处新发杂合变异,c.171G>T;根据经ACMG指南评为可能致病变异,基因功能预测具有致病性。结合患儿临床特征、基因检测结果并查询相关文献,确诊为Coffin-Siris综合征9型。结论发现未报道的SOX11基因变异位点和临床表型,扩大了Coffin-Siris综合征9型基因变异谱。

Objective To analyze the clinical and genetic variant characteristics of Coffin-Siris syndrome type 9.Methods The clinical data of a child with Coffin-Siris9 type were retrospectively analyzed,the clinical and genetic analysis of the family was performed,and the relevant literature was reviewed.Results The patient,female,9 years old and 9 months,was treated for 9 years due to slow height growth and 4 years of speech regression.The child is mentally retarded,with a depression in the skull base on MRI of the skull and a growth hormone deficiency.Total exon gene detection showed that there were new heterozygous variants in the SOX11 gene of the child at c.171G>T site 1,c.171G>T.Genetic function predictions rated as probable pathogenic variants by ACMG guidelines are pathogenic.Based on the clinical characteristics of the child,the results of genetic testing and the relevant literature,the diagnosis was confirmed to be Coffin-Siris syndrome type 9.Conclusion The unreported SOX11 gene variant loci and clinical phenotype were found,and the variant spectrum of the type 9 gene of Coffin-Siris syndrome was expanded.