Zhang Katherynn K, Rupar Charles A, Prasad Chitra
Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
Ann Indian Acad Neurol. 2024 Jul 1;27(4):430-434. doi: 10.4103/aian.aian_118_24. Epub 2024 Aug 8.
The calcium/calmodulin-dependent protein kinase II-beta ( CAMK2B ) gene is important for calcium signaling and glutamatergic synapses, which impacts neuroplasticity and learning. Mutations in the CAMK2B gene, which cause autosomal dominant mental retardation 54 (Online Mendelian Inheritance in Man # 617799), can have multisystemic clinical impact. Due to the rarity of CAMK2B mutations at present, case reports about patients with CAMK2B mutations are limited. The present case report describes a patient with CAMK2B -related disorder confirmed by whole exome sequencing and adds to the current information in the literature. We review three case reports in literature with detailed descriptions of patients presenting with mutations in the CAMK2B gene. While there is a broad spectrum of phenotypic presentations, there appears to be an emerging neurobehavioral phenotype. Optimal management of patients will require attention to behavioral issues as well as involvement of neuropsychiatric expertise along with other supports for development and vision abnormalities.
钙/钙调蛋白依赖性蛋白激酶II-β（CAMK2B）基因对于钙信号传导和谷氨酸能突触很重要，而这会影响神经可塑性和学习。CAMK2B基因的突变会导致常染色体显性遗传性智力迟钝54（《人类在线孟德尔遗传》编号#617799），可能产生多系统临床影响。由于目前CAMK2B突变罕见，关于CAMK2B突变患者的病例报告有限。本病例报告描述了一名经全外显子组测序确诊为CAMK2B相关疾病的患者，并补充了文献中的现有信息。我们回顾了文献中的三篇病例报告，详细描述了表现出CAMK2B基因突变的患者。虽然有广泛的表型表现，但似乎有一种新出现的神经行为表型。对患者的最佳管理需要关注行为问题，以及神经精神专业知识的参与，同时还需要其他针对发育和视力异常的支持。
