Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome

doi:10.7518/hxkq.2019.03.020

Abstract

Abstract:

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.

Key words: Treacher Collins syndrome, congenital craniofacial malformation, neural crest cells, ribosome

CLC Number:

Bin Yin,Bing Shi,Zhonglin Jia. Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome[J]. West China Journal of Stomatology, 2019, 37(3): 330-335.

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