一例RAB3GAP1变异所致的Warburg micro综合征1型的分析

Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene

目的探讨1例发育落后患儿的临床及遗传学特征。方法对患儿进行全外显子组测序分析,并用Sanger测序对变异位点进行验证。结果全外显子组测序显示患儿携带两个RAB3GAP1基因的杂合性剪接变异:c.2607-1G>C和c.899+2dupT,分别遗传自其表型正常的母亲和父亲。结论确诊了1例罕见的Warburg micro综合征1型。患儿的表型与文献报道一致,并存在腭弓发育不良、显著的高腭弓及牙齿发育不良等罕见表现。

Objective To explore the clinical and genetic characteristics of a child featuring developmental delay.Methods The child was subjected to whole exome sequencing.Candidate variant was verified by Sanger sequencing.Results Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899+2dupT of the RAB3GAP1 gene,which were respectively derived from her mother and father.Conclusion A rare case of Warburg micro syndrome type 1 was diagnosed.The phenotype of the child was consistent with the literature,in addition with dysplasia of palatine arch,prominent high palatal arch and tooth dysplasia.Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.