Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
Dan-Yan ZhuangShu-Ni SunZhuo-Jie HuMin XieYu-Xin ZhangLu-Lu YanJie-Wen PanHai-Bo LiPublished in: Molecular genetics & genomic medicine (2024)
Our study found two novel pathogenic variants of TCOF1 gene and clarified the etiology of Treacher Collins syndrome. We also enriched the phenotypic spectrum of Treacher Collins syndrome and TCOF1 gene variation spectrum in the Chinese population, and provided the basis for clinical diagnosis, treatment and genetic counseling.