摘要
Treacher Collins综合征是以常染色体显性遗传为主要遗传方式的先天颅面畸形。由于神经嵴细胞和神经上皮细胞核糖体的生物合成受阻,神经嵴细胞迁移到颅面部的数量减少,引起第一、二鳃弓发育不全,导致疾病发生。目前明确的致病基因包括细胞质核糖体生物发生因子1(tcof1)、聚合酶Ⅰ亚基c(polr1c)和聚合酶Ⅰ亚基d(polr1d)。本文就目前针对该综合征的3个主要致病基因的遗传学研究和发病机制探索,以及该综合征的临床表现、预防及临床治疗策略作一综述。
Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis of ribosomes in neural crest cells and neuroepithelial cells is blocked and the number of neural crest cells that migrate to the craniofacial region decreases, causing first and second branchial arch dysplasia. Definite causative genes include treacle ribosome biogenesis factor 1 (tcof1), RNA polymerase Ⅰ and Ⅲ subunit C (polr1c), and RNA polymerase Ⅰ and Ⅲ subunit D (polr1d). This paper provides a review of research of three major pathogenic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.
作者
殷斌
石冰
贾仲林
Yin Bin;Shi Bing;Jia Zhonglin(State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China)
出处
《华西口腔医学杂志》
CAS
CSCD
北大核心
2019年第3期330-335,共6页
West China Journal of Stomatology
基金
国家重点研发计划精准医学研究项目(20 16YFC09052-03)
国家自然科学基金(81271118)
国家自然科学基金青年基金(81600849)~~
