国际生殖健康/计划生育杂志2026，Vol.45Issue(2)：116-119,129,5.DOI:10.12280/gjszjk.20250532
复合型皮质发育不良伴其他脑畸形1型患儿一例
A Case of Complex Cortical Dysplasia with Other Brain Malformations Type 1
摘要
Abstract
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.关键词
皮质发育畸形/微管蛋白/突变/全外显子组测序/TUBB3基因Key words
Malformations of cortical development/Tubulin/Mutation/Whole exome sequencing/TUBB3 gene引用本文复制引用
王玉佩,翟玺国,张钏,梁莉,朱静,惠玲..复合型皮质发育不良伴其他脑畸形1型患儿一例[J].国际生殖健康/计划生育杂志,2026,45(2):116-119,129,5.基金项目
甘肃省科技计划项目(25YFFA057,23YFFA0045) （25YFFA057,23YFFA0045）
甘肃省卫生健康行业科研计划项目(GSWSKY2021-021) （GSWSKY2021-021）
