Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2 , BBS7, and EVC2 Mutations.
Piranit Nik KantaputraPrapai DejkhamronRekwan SittiwangkulKamornwan KatanyuwongChumpol NgamphiwNuntigar SonsuwanWorrachet IntachaiSissades TongsimaPhilip L BealesWorakanya BuranaphatthanaPublished in: Genes (2022)
Objective: To investigate dental anomalies and the molecular etiology of a patient with Ellis−van Creveld syndrome and two patients with Bardet−Biedl 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−van 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−Biedl syndrome with a homozygous frameshift mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7. Patient 3 had Bardet−Biedl 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.
Keyphrases
- case report
- end stage renal disease
- ejection fraction
- newly diagnosed
- chronic kidney disease
- oral health
- prognostic factors
- type diabetes
- metabolic syndrome
- peritoneal dialysis
- machine learning
- adipose tissue
- insulin resistance
- weight gain
- body mass index
- dna methylation
- patient reported outcomes
- early onset
- physical activity