Dental Anomalies in Ciliopathies Lessons from Patients with BBS2 BBS7 and EVC2 Mutations

Abstract

Objective: To investigate dental anomalies and the molecular etiology of a patient with Ellis杤an Creveld syndrome and two patients with Bardet朆iedl syndrome two examples of ciliopathies. Patients and Methods: Clinical examination radiographic evaluation whole exome sequencing and Sanger direct sequencing were performed. Results: Patient 1 had Ellis杤an Creveld syndrome with delayed dental development or tooth agenesis and multiple frenula the feature found only in patients with mutations in ciliary genes. A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified. Patient 2 had Bardet朆iedl syndrome with a homozygous frameshift mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7. Patient 3 had Bardet朆iedl syndrome and carried a heterozygous mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7 and a homozygous mutation in BBS2 (c.209G>A; p.Ser70Asn). Her clinical findings included global developmental delay disproportionate short stature myopia retinitis pigmentosa obesity pyometra with vaginal atresia bilateral hydronephrosis with ureteropelvic junction obstruction bilateral genu valgus post-axial polydactyly feet and small and thin fingernails and toenails tooth agenesis microdontia taurodontism and impaired dentin formation. Conclusions: EVC2 BBS2 and BBS7 mutations found in our patients were implicated in malformation syndromes with dental anomalies including tooth agenesis microdontia taurodontism and impaired dentin formation. ? 2022 by the authors.