Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation

Objective: Since Wnt signaling plays an important role in both tooth agenesis and altered intestine homeostasis, the aim was to compare gastrointestinal symptoms in patients with isolated oligodontia caused by a Wnt pathway gene mutation and controls. Methods: A case–control study was designed to compare self-reported gastrointestinal symptoms among patients with isolated oligodontia, caused by a Wnt signaling gene mutation, and fully dentate controls. The Gastrointestinal Symptom Rating Scale (GSRS) was used to assess gastrointestinal symptoms. Prevalence and severity of gastrointestinal symptoms among patients and age- and gender-matched controls were evaluated. Results: Twenty patients with isolated oligodontia and a pathogenic variant in the wnt pathway genes WNT10A, LRP6, or PAX9 participated. The prevalence of gastrointestinal symptoms was higher in the oligodontia patients compared to their controls (Χ²(1) = 87.33, p =.008). Mean GSRS total scores (p =.011) and domain scores for “abdominal pain” (p =.022), “reflux” (p =.003) and constipation (p =.030) were higher for these oligodontia patients compared to their controls. Conclusion: Gastrointestinal symptoms are more prevalent and more severe in patients with isolated oligodontia and a deficiency in a Wnt pathway-related gene, when compared to controls without tooth agenesis.