[Genetic analysis of a family with BCL11A-related intellectual disability].

• DOI: 10.3760/cma.j.cn511374-20210518-00424
• Publication Date: 2023-01-10
• Authors: Ailing Liu; Yanyan Hu; Baoqiang Chong; Shuqi Zheng; Lin Li
• Keywords: Proband; Sanger sequencing; Compound heterozygosity; Medical genetics

To explore the genetic basis for two patients from a family with BCL11A-related intellectual disability (BCL11A-ID).Clinical data of proband and her members was analyzed. Chromosomal karyotyping analysis, trio-whole exome sequencing (trio-WES) copy number variation (CNV-seq) were carried out. For suspected variants, Sanger used to verify, pathogenicity assessment conducted.The mother both had language impairment, their fetal hemoglobin (HbF) significantly elevated. A heterozygous c.1327_c.1328delTC (p.Ser443Hisfs*128) variant found in exon 4 BCL11A gene by WES, which has resulted truncated expression encoded protein, verified that inherited mother. The not related databases. predicted as pathogenic according guidelines American College Medical Genetics Genomics (ACMG) (PVS1+PM2+PP1). No karyotypic abnormality proband, parents brother, no CNVs parents.The may underlay BCL11A-ID This de novo expanded mutational spectrum gene.