Department of Clinical and Molecular Genetics and Rare Disease Unit, Valle Hebron Research Institute, Barcelona, Spain.
Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.
Am J Med Genet A. 2022 Mar;188(3):991-995. doi: 10.1002/ajmg.a.62596. Epub 2021 Dec 11.
The PACS2 gene encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation that has been shown to be highly expressed during human prenatal brain development. Pathogenic variants in PACS2 have been recently shown to be implicated in a phenotype with global developmental delay/intellectual disability, seizures, autistic traits, facial dysmorphic features, and cerebellar dysgenesis. Here, we report a 25-year-old male with intellectual disability, epileptic encephalopathy, cerebellar dysgenesis, facial dysmorphism, and a previously reported pathogenic variant in PACS2. To our knowledge, this is the oldest patient reported who, in addition to the known phenotype described in PACS2 patients, presented with a vein of Galen malformation and dilated cardiomyopathy as previously unreported findings.
PACS2 基因编码一种多功能分拣蛋白，参与核基因表达和途径流量调节，已被证明在人类产前大脑发育过程中高度表达。最近的研究表明，PACS2 的致病变体与一种表型有关，该表型具有全面发育迟缓/智力残疾、癫痫发作、自闭症特征、面部畸形特征和小脑发育不良。在这里，我们报告了一名 25 岁男性，患有智力残疾、癫痫性脑病、小脑发育不良、面部畸形和先前报道的 PACS2 致病性变体。据我们所知，这是报告的最年长的患者，除了在 PACS2 患者中描述的已知表型外，还出现了以前未报道过的静脉巨细胞畸形和扩张型心肌病。
