Genetic Variants in KIF7 May Contribute to Supernumerary Tooth Formation.

ABSTRACT:

Objective

Kinesin Family Member 7 (KIF7) regulates ciliary integrity. Cilia-mediated sonic hedgehog signalling regulates tooth number, position, and morphology. The objective of the study was to investigate whether KIF7 variants could contribute to the formation of supernumerary teeth.

Methods

Whole-exome sequencing was performed on 153 individuals from 130 families with isolated supernumerary tooth types. Immunohistochemistry of Kif7 expression during early odontogenesis was performed in mouse embryos. Mutant KIF7 protein models were generated.

Results

We identified 4 rare missense variants (c.160C>T;p.His54Tyr, c.175G>A;p.Val59Met, c.1964C>G;p.Pro655Arg, and c.2551C>T;p.Arg851Cys), 1 novel missense variant (c.1882 G>A;p.Glu628Lys), and 1 insertion variant (c.1893_18

SUBMITTER: Chainaphaphorn P 

PROVIDER: S-EPMC12355526 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature