Zhao Meifang, Fan Liangliang, Xiang Rong
School of Life Science, Central South University, Changsha, Hunan 410013, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jun 10;41(6):758-760. doi: 10.3760/cma.j.cn511374-20210607-00478.
Char syndrome is a rare autosomal dominant genetic disorder characterized by patent ductus arteriosus, facial dysmorphism, and dysplasia of fingers/toes. It may also be associated with multiple papillae, dental dysplasia, and sleep disorders. TFAP2B has proven to be a pathogenic gene for neural crest derivation and development, and several variants of this gene have been identified. Bone morphogenetic protein signaling plays an important role in embryonic development by participating in limb growth and patterning, and regulation of neural crest cell development. TFAP2B is an upstream regulatory gene for bone morphogenetic proteins 2 and 4. Variants of the TFAP2B gene may lead to abnormal proliferation of neural crest cells by affecting the expression of bone morphogenetic proteins, resulting in multiple organ dysplasia syndrome. In addition, TFAP2B variants may only lead to patent ductus arteriosus instead of typical Char syndrome.
查尔综合征是一种罕见的常染色体显性遗传病，其特征为动脉导管未闭、面部畸形以及手指/脚趾发育异常。它还可能与多个乳头、牙齿发育异常和睡眠障碍有关。已证实TFAP2B是神经嵴衍生和发育的致病基因，并且已鉴定出该基因的几种变体。骨形态发生蛋白信号传导通过参与肢体生长和模式形成以及神经嵴细胞发育的调节，在胚胎发育中起重要作用。TFAP2B是骨形态发生蛋白2和4的上游调节基因。TFAP2B基因的变体可能通过影响骨形态发生蛋白的表达导致神经嵴细胞异常增殖，从而导致多器官发育异常综合征。此外，TFAP2B变体可能仅导致动脉导管未闭，而非典型的查尔综合征。
