AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

ABSTRACT:

Background

Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information.

Methods

Data were collected via a structured questionnaire. Sequencing was performed in these patients mostly due to diagnostic purpose. A little more than half of the AXIN2 variant carriers were identified by NGS; other six were family members.

Results

Here, we report 13 individuals with a heterozygous AXIN2 pathogenic/likely pathogenic variant who have a variable expression of oligodontia-colorectal cancer syndrome (OMIM 608615) or oligodontia-cancer predisposition syndrome (ORPHA 300576). Three individuals from one family also had cleft palate

SUBMITTER: Roht L 

PROVIDER: S-EPMC10265056 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature