Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome.

Author: Bin YIN ¹ ; Bing SHI ¹ ; Zhong-Lin JIA ¹
Author Information

1. 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.
Publication Type:Journal Article
Keywords: Treacher Collins syndrome; congenital craniofacial malformation; neural crest cells; ribosome
MeSH: DNA-Directed RNA Polymerases; genetics; Humans; Mandibulofacial Dysostosis; genetics; Neural Crest; Nuclear Proteins; Phosphoproteins
From: West China Journal of Stomatology 2019;37(3):330-335
CountryChina
Language:Chinese
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 patho-genic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.