SSR4基因缺失导致先天性糖基化障碍1例

A case of congenital disorder of glycosylation due to SSR4 gene deletion

目的分析1例糖基化障碍(CDG)患儿的临床及分子遗传学特征。方法选取2019年12月31日因"生后喂养困难"首诊于浙江大学医学院附属儿童医院保健科的1例生长发育迟缓的男性患儿(4月龄)作为研究对象。应用高通量测序技术进行全外显子组测序,采用qPCR技术对疑似缺失片段及家系成员的携带情况进行验证。结果高通量测序显示患儿chrX:153045645-153095809区域(约50 kb)捕获信号缺失,涉及SRPK3、IDH3G、SSR4、PDZD等4个OMIM基因;qPCR验证患儿该区域拷贝数完全缺失,患儿兄长及父母则未发现同样的缺失。结论Xq28区涉及SSR4基因的片段缺失可能是患儿SSR4-CDG的遗传学病因。

Objective To explore the clinical and molecular characteristics of a child with Congenital disorders of glycosylation(CDG).Methods A 4-month-old boy who had presented at the Children's Hospital Affiliated to Zhejiang University Medical School on December 31,2019 due to feeding difficulties after birth was selected as the study subject.High-throughput sequencing was carried out for the patient,and real-time qPCR was used for validating the suspected deletion fragments and the carrier status of other members of his family.Results High-throughput sequencing revealed that the child had lost the capture signal for chrX:153045645-153095809(approximately 50 kb),which has involved 4 OMIM genes including SRPK3,IDH3G,SSR4 and PDZD4.qPCR verified that the copy number in this region was zero,while that of his elder brother and parents was all normal.Conclusion The deletion of the fragment containing the SSR4 gene in the Xq28 region probably underlay the SSR4-CDG in this child.