Musumeci Antonino, Vinci Mirella, Treccarichi Simone, Greco Donatella, Rizzo Biagio, Gloria Angelo, Federico Concetta, Saccone Salvatore, Musumeci Sebastiano Antonino, Calì Francesco
Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Department of Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy.
Int J Mol Sci. 2025 May 1;26(9):4297. doi: 10.3390/ijms26094297.
is a gene involved in various biological processes and is highly expressed in the central nervous system, where it plays a key role in complement activity, brain circuit development, and cognitive function. It has been implicated as a susceptibility gene for schizophrenia and a causative factor in developmental epileptic encephalopathy, neurodevelopmental disorders, and intellectual disability. However, no MIM phenotype number has been assigned to for a specific disorder. Here, we report an individual presenting with moderate intellectual disability, anxiety disorder, obsessive-compulsive personality traits, and facial dysmorphisms. Trio-based whole-exome sequencing (WES) identified two heterozygous variants, c.8095A>G and c.5315T>C, both classified as variants of uncertain significance (VUS) according to ACMG criteria. Computational analysis using the DOMINO tool supported an autosomal recessive inheritance model for . This study contributes to the growing evidence linking to neurodevelopmental phenotypes, highlighting the need for further investigations to clarify its pathogenic role.
是一个参与多种生物学过程的基因，在中枢神经系统中高度表达，在补体活性、脑回路发育和认知功能中起关键作用。它被认为是精神分裂症的易感基因，也是发育性癫痫性脑病、神经发育障碍和智力残疾的致病因素。然而，尚未为特定疾病为其指定MIM表型编号。在这里，我们报告了一名表现为中度智力残疾、焦虑症、强迫性人格特质和面部畸形的个体。基于三联体的全外显子测序（WES）鉴定出两个杂合变异，c.8095A>G和c.5315T>C，根据ACMG标准，这两个变异均被分类为意义未明的变异（VUS）。使用DOMINO工具进行的计算分析支持了其常染色体隐性遗传模式。这项研究为越来越多的将其与神经发育表型联系起来的证据做出了贡献，强调了进一步研究以阐明其致病作用的必要性。
