Khair Abdulhafeez M, Salvucci Alana E
Thomas Jefferson University, Sidney Kimmel Medical College, duPont Hospital for Children, Wilmington DE, USA.
Oman Med J. 2021 Mar 31;36(2):e240. doi: 10.5001/omj.2021.27. eCollection 2021 Mar.
gene is a recently identified gene located in 15q12 chromosome and encodes for gamma-aminobutyric acid (GABA) receptor subunit beta-3 protein, which is linked to the GABAA receptor. The gene is believed to share a role in inhibitory GABAergic synapses, GABA iron-gated channel function, and possible cellular response to histamine. The β3 subunit is expressed in cerebral grey matter, thalami, hippocampi, and cerebellum, among other structures. Faulty function is linked to several neurological disorders and clinical syndromes. However, the spectrum of such disorders is not yet well known. We present three case reports highlighting the potentially expanding clinical phenotype and variable expression in children with mutated gene.
基因是一个最近发现的位于15号染色体长臂12区的基因，它编码γ-氨基丁酸（GABA）受体β-3亚基蛋白，该蛋白与GABAA受体相关。据信该基因在抑制性GABA能突触、GABA离子门控通道功能以及细胞对组胺的可能反应中发挥作用。β3亚基在大脑灰质、丘脑、海马体和小脑等结构中表达。功能异常与多种神经系统疾病和临床综合征有关。然而，这类疾病的范围尚未完全明确。我们展示了三个病例报告，突出了携带该基因突变的儿童中潜在不断扩大的临床表型和可变表达。
