CHARGEd with neural crest defects
CHARGEd with neural crest defects
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DOI：
10.1002/ajmg.c.31584
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发表时间：
2017-10
期刊：
影响因子：
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通讯作者：
S. Pauli;R. Bajpai;Annette Borchers
中科院分区：
文献类型：
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作者：
S. Pauli;R. Bajpai;Annette Borchers
神经嵴细胞是高度迁移的多能细胞，其产生多种衍生物，包括软骨、骨、平滑肌、色素和内分泌细胞以及神经元和神经胶质。神经嵴源性组织的异常导致CHARGE综合征的病因，CHARGE综合征是一种复杂的畸形疾病，包括临床症状，如缺损、心脏缺陷、软骨闭锁、生长发育迟缓、生殖器发育不全、耳畸形和耳聋。染色体结构域解旋酶DNA结合蛋白7（CHD7）基因的突变是CHARGE综合征的原因，不同模型系统中的功能丧失数据已经牢固地确立了CHD7在神经嵴发育中的作用。在这里，我们将总结我们目前对CHD7在神经嵴发育中的功能的理解，并讨论CHARGE综合征与其他发育障碍的可能联系。
Neural crest cells are highly migratory pluripotent cells that give rise to diverse derivatives including cartilage, bone, smooth muscle, pigment, and endocrine cells as well as neurons and glia. Abnormalities in neural crest‐derived tissues contribute to the etiology of CHARGE syndrome, a complex malformation disorder that encompasses clinical symptoms like coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. Mutations in the chromodomain helicase DNA‐binding protein 7 (CHD7) gene are causative of CHARGE syndrome and loss‐of‐function data in different model systems have firmly established a role of CHD7 in neural crest development. Here, we will summarize our current understanding of the function of CHD7 in neural crest development and discuss possible links of CHARGE syndrome to other developmental disorders.