Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA.
Division of Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Trends Mol Med. 2023 Oct;29(10):783-785. doi: 10.1016/j.molmed.2023.06.009. Epub 2023 Jul 14.
TBCK syndrome is an autosomal recessive disorder primarily characterized by global developmental delay, hypotonia, abnormal magnetic resonance imaging (MRI), and distinctive craniofacial phenotypes. High variability is observed among affected individuals and their corresponding variants, making clinical diagnosis challenging. Here, we discuss recent breakthroughs in clinical considerations, TBCK function, and therapeutic development.
TBCK 综合征是一种常染色体隐性遗传病，主要表现为全面发育迟缓、肌张力低下、磁共振成像（MRI）异常以及独特的颅面表型。受影响个体及其相应变异体之间存在高度变异性，使得临床诊断具有挑战性。本文讨论了 TBCK 综合征在临床考虑、TBCK 功能和治疗开发方面的最新突破。
