[Analysis of a child with X-linked intellectual disability due to a maternal de novo splicing variant of the PAK3 gene].

• DOI: 10.3760/cma.j.cn5113874-20220513-00326
• Publication Date: 2023-07-10
• Authors: Chen Wang; Xueping Qiu; Hui Hu; Bingyu Jin; Yating Cheng; Yue Zhao; Chun Zhou; Ling Ma; Yuanzhen Zhang; Fang Zheng
• Keywords: Minigene; Sanger sequencing; Medical genetics

To explore the genetic etiology for a child with profound intellectual disabilities and obvious behavioral abnormalities.A male who had presented at Zhongnan Hospital of Wuhan University on December 2, 2020 was selected as study subject. Peripheral blood samples his parents were collected subjected to whole exome sequencing (WES). Candidate variant verified by Sanger sequencing. Short tandem repeat (STR) analysis carried out determine its parental origin. The splicing also validated in vitro minigene assay.WES results revealed that harbored novel c.176-2A>G PAK3 gene, which inherited from mother. assay have confirmed aberrant exon 2. According guidelines American College Medical Genetics Genomics, it classified pathogenic (PVS1+PM2_Supporting+PP3).The gene probably underlay disorder this child. Above finding has expanded variation spectrum provided basis counseling prenatal diagnosis family.