Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia

Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia.

Automated summary

This study identified a novel de novo missense mutation in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia, providing the first report of KDF1 missense mutation causing this condition.