复合型皮质发育不良伴其他脑畸形1型患儿一例OA

Complex cortical dysplasia with other brain malformations type 1(CDCBM1)is a disorder characterized by abnormal neuronal migration and axonal guidance defects,clinically presenting with intellectual disability,strabismus,reduced axial tone,and epilepsy.We report a case of a child presenting with developmental delay,cognitive impairment,and abnormal brain development.Trio-whole exome sequencing revealed a heterozygous missense mutation c.862G>A(p.Glu288Lys)in exon 4 of the TUBB3 gene,validated by Sanger sequencing.Neither parent carried this variant.According to the American College of Medical Genetics and Genomics(ACMG)criteria,this variant is classified as likely pathogenic(PS2+PM2+PP2).The TUBB3 gene encodes β-Ⅲ tubulin.The genetic testing results indicated that this case of CDCBM1 was caused by the heterozygous missense mutation c.862G>A(p.Glu288Lys)in TUBB3 gene,providing the evidence for the clinical diagnosis and genetic counseling of this family.