WDR13基因缺失致智力障碍孕妇一例遗传学分析及产前诊断OA

Aim:To investigate the genetic etiology of a pregnant woman with intellectual disability and to perform pre-natal diagnosis.Methods:In February 2022,a pregnant woman with intellectual disability who visited the First Affiliated Hospital of Zhengzhou University was enrolled.Peripheral blood samples(2 mL each)were collected from the patient and her parents.Whole exome sequencing was performed to screen for pathogenic variants,and fluorescence quantitative PCR was used for family validation.Chorionic villus sampling was conducted at 12 weeks of gestation for prenatal diagnosis.Re-sults:The patient presented with intellectual disability as the main clinical manifestation.Whole exome sequencing revealed a 131.451 kb heterozygous deletion in the chromosome Xp11.23 region,which encompassed the Wiskott-Aldrich syndrome gene and the WD repeat domain 13(WDR13)gene.Fluorescence quantitative PCR confirmed the deletion of the WDR13 gene.Prenatal diagnosis indicated a male fetus without the WDR13 gene deletion.Follow-up until 1.5 years of age revealed no abnormal phenotypes.Conclusion:The deletion of the WDR13 gene is the genetic etiology of intellectual disability in this case.