Kantaputra, Piranit;
Dejkhamron, Prapai;
Sittiwangkul, Rekwan;
Katanyuwong, Kamornwan;
Ngamphiw, Chumpol;
Sonsuwan, Nuntigar;
Intachai, Worrachet;
... Buranaphatthana, Worakanya; + view all
(2023)
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
Genes
, 14
(1)
, Article 84. 10.3390/genes14010084.
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Abstract
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.
Type: | Article |
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Title: | Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations |
Location: | Switzerland |
Open access status: | An open access version is available from UCL Discovery |
DOI: | 10.3390/genes14010084 |
Publisher version: | https://doi.org/10.3390/genes14010084 |
Language: | English |
Additional information: | © 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
Keywords: | Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, ciliopathy, dental anomalies, tooth malformations, Ellis-van Creveld syndrome, Bardet-Biedl syndrome, primary cilia, BARDET-BIEDL-SYNDROME, PRIMARY CILIUM, BETA-CATENIN, HEDGEHOG, COMPLEX, CILIARY, GENERATION, BASE, MICE |
UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
URI: | https://discovery.ucl.ac.uk/id/eprint/10164647 |
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