CSMD1 中的双等位基因突变与伴有智力障碍和可变皮质畸形的神经发育障碍有关。
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
机构信息
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.
Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CTt, 06032, USA.
出版信息
Cell Death Dis. 2024 May 30;15(5):379. doi: 10.1038/s41419-024-06768-6.
CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functions of the complement pathway modulate neural development and synaptic activity. While a genetic risk factor for neuropsychiatric disorders, the role of CSMD1 in neurodevelopmental disorders is unclear. Through international variant sharing, we identified inherited biallelic CSMD1 variants in eight individuals from six families of diverse ancestry who present with global developmental delay, intellectual disability, microcephaly, and polymicrogyria. We modeled CSMD1 loss-of-function (LOF) pathogenesis in early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells (hESCs). We show that CSMD1 is necessary for neuroepithelial cytoarchitecture and synchronous differentiation. In summary, we identified a critical role for CSMD1 in brain development and biallelic CSMD1 variants as the molecular basis of a previously undefined neurodevelopmental disorder.
CSMD1(Cub and Sushi Multiple Domains 1)是补体级联反应的一个公认调节剂,补体级联反应是先天免疫反应的重要组成部分。CSMD1 在中枢神经系统(CNS)中高度表达,补体途径的新兴功能调节神经发育和突触活动。虽然 CSMD1 是神经精神疾病的遗传风险因素,但它在神经发育障碍中的作用尚不清楚。通过国际变异共享,我们在六个具有不同祖先的家庭中的八个人中鉴定出了 CSMD1 的遗传双等位基因变异,这些人表现为全面发育迟缓、智力残疾、小头畸形和多小脑回。我们在从 CSMD1 基因敲除人类胚胎干细胞(hESC)分化而来的早期前脑类器官中模拟了 CSMD1 功能丧失(LOF)发病机制。我们表明 CSMD1 对于神经上皮细胞形态发生和同步分化是必需的。总之,我们确定了 CSMD1 在大脑发育中的关键作用,以及双等位基因 CSMD1 变异作为以前未定义的神经发育障碍的分子基础。