Miao Yu, Hangbo Liu, Yang Liu, Jinglei Zheng, Junyi Wu, Kai Sun, Hailan Feng, Haochen Liu, Dong Han
Keratinocyte differentiation factor 1 ( KDF1 ) is a recently identified and rare candidate gene for human tooth agenesis; however, KDF1 -related morphological characteristics and pathological changes in dental tissue and the oral epithelium remain largely unknown. Here, we employed whole-exome sequencing (WES) and Sanger sequencing to screen for the suspected variants in a cohort of 151 tooth agenesis patients, and we segregated a novel KDF1 heterozygous missense variation, c.920G>C (p.R307P), in a non-syndromic tooth agenesis family...
October 18, 2022: International Journal of Molecular Sciences