A missense variant in LAMB3 underlies variable expressivity in familial tooth agenesis and microdontia.
B Niccolini, C Modafferi, G Lauretti et al.
✦ AI-curated · Sources linked
Case in brief
A three-generation family presented with non-syndromic dental anomalies, including missing teeth (oligodontia), microdontia and delayed eruption. Clinical-exome sequencing in the proband and parents identified a heterozygous LAMB3 c.547C>T variant; Sanger sequencing confirmed segregation in the family. The report links this variant to the family’s tooth phenotype and describes variable expression among relatives. No treatment or clinical outcome is reported.
What made this case unusual
The family showed variable dental expression associated with a heterozygous LAMB3 variant, a gene more typically associated with junctional epidermolysis bullosa but also implicated in isolated dental phenotypes.
Diagnostic / clinical pearl
Consider LAMB3 in genetic evaluation of isolated tooth agenesis, particularly when dental findings vary among family members.