EDARADD – Tooth Agenesis

In a cohort of 127 probands with non-syndromic tooth agenesis, candidate gene analysis identified two unrelated individuals harboring heterozygous EDARADD variants associated with oligodontia (HP:0000677; mean 11.7 missing teeth) (PMID:23991204). No familial segregation or replication was reported for these variants and no functional assays in the context of isolated tooth agenesis have been described. EDARADD’s known role in NF-κB activation during ectodermal development provides biological plausibility, but direct experimental evidence linking EDARADD dysfunction to tooth agenesis is lacking. Overall, current data from a single study are insufficient to establish causality and further work is needed to confirm these preliminary findings and clarify the molecular mechanism.

Key take-home: EDARADD has emerged as a candidate gene in non-syndromic oligodontia but evidence remains limited, precluding immediate clinical implementation.

References

• PloS one • 2013 • Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations PMID:23991204

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