Associations Between Dental Anomalies and Ocular, Cutaneous and Skin Appendages Features
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Whole Genome Sequencing, Cephalometric tracing.
- Who it may be relevant to
- Registry conditions: Congenital Cataract, Tooth Abnormalities, Ocular Pathologies. Basic parameters: 12 years — 70 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Clinical Investigation Into the Co-occurrence of Dental Anomalies With Ocular and Cutaneous Features
Overview
Considering recent literature, it is possible to hypothesise a link between dental anomalies and ocular and/or cutaneous findings, given the existence of shared genetic and developmental mechanisms between these two anatomical areas. Both the eye and teeth develop from ectodermal and mesenchymal tissues, involving common molecular signalling pathways such as Wnt, BMP and PAX. Genetic variants affecting these pathways can therefore determine combined phenotypes, such as congenital cataracts associated with dental agenesis or enamel malformations. Some rare genetic syndromes, such as Nance-Horan syndrome and oculofacio-cardio-dental (OFCD) syndrome, support the hypothesis of a systemic correlation between odontogenesis and ocular development. In a previous study on congenital cataracts, nearly 10% of probands with variants in the BCOR, CWC27, IFIH1, NHS, and PAX6 genes had various dental abnormalities. Therefore, exploring the possible connection between eye and dental diseases may not only facilitate early and multidisciplinary diagnosis, but also open up new perspectives in genetic research and the development of personalised therapeutic approaches, for which whole genome sequencing (WGS) appears to be the first choice for investigating non-syndromic forms. Therefore, the current clinical study aims to identify variants in genes common to eye diseases and dental anomalies (agenesis, supernumerary teeth, Hutchinson's teeth, mulberry molars) in orthodontic patients over the age of 12 with dental anomalies who are about to begin orthodontic treatment or who are attending routine check-ups at the Orthodontics and Paediatric Dentistry Unit, Department of Clinical, Surgical, Diagnostic and Paediatrics Sciences at the University of Pavia who have a family history of ocular and cutaneous manifestations or presenting at the same time dental, ocular and/or cutaneous anomalies. Patients who are eligible will be invited to participate in the study. After signing the informed consent form, the Case Report Form will be completed to collect the data of interest for the study; previous medical reports will be asked to patients or parents/legal guardians in case of minors to ascertain ocular and cutaneous pathologies; a buccal swab will be taken to collect a DNA sample that will be analysed with Next Generation Sequencing. In addition, cephalometric evaluations will be performed if lateral teleradiographs will be available, if already performed in accordance with Good Clinical Practice for the purposes of orthodontic assessment of patients.
Interventions
- Genetic Whole Genome Sequencing
Genetic testing will be performed to find variants in genes involving congenital cataract and/or ocular diseases (keratitis, keratoconus, corneal dystrophies, ectopia lentis, glaucoma, retinitis pigmentosa, coloboma and aniridia) and dental anomalies (tooth agenesis, supernumerary teeth, Hutchinson teeth, mulberry molars). Cutaneous appendage anomalies will be also evaluated in clinical history for ascertaining ectodermal diplasia. - Other Cephalometric tracing
Cephalometric tracing will be performed on lateral cephalometric radiographs if present and not taken on purpose for the study
Primary outcome measures
- Presence of variants in common genes for dental anomalies, ocular diseases and cutaneous/skin appendages features [Time frame: Baseline]
Secondary outcome measures (9)
- SNA angle [Time frame: Baseline]
- SNB angle [Time frame: Baseline]
- ANB angle [Time frame: Baseline]
- SN plane [Time frame: Baseline]
- ANS-PNS plane [Time frame: Baseline]
- GoGn plane [Time frame: Baseline]
- Sella turcica length [Time frame: Baseline]
- Sella turcica diameter [Time frame: Baseline]
- Sella turcica depth [Time frame: Baseline]
Eligibility criteria
Inclusion criteria
- Supernumerary teeth
- oligodontia
- screw driver sharped incisors
- Hutchinson's teeth
- mulberry molars
- tooth agenesis
- congenital cataract, keratitis, keratoconus, corneal dystrophies, ectopia lentis, glaucoma, retinitis pigmentosa, coloboma and aniridia in probands or relatives
- skin appendages anomalies in probands or relatives
Exclusion criteria
- Previous orthodontic, restorative, endodontic, prosthetic and surgical treatment that could alter tooth morphology and position
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
Italy · 2 centers
- Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia — Pavia
- Unit of Orthodontics and Pediatric Dentistry - Section of Dentistry - Department of Clinic — Pavia
Publications
- Lecca M, Mauri L, Gana S, Del Longo A, Morelli F, Nicotra R, Plumari M, Galli J, Sirchia F, Valente EM, Cavallari U, Mazza M, Signorini S, Errichiello E. Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract. Clin Genet. 2024 Oct;106(4):403-412. doi: 10.1111/cge.14568. Epub 2024 Jun 5. PMID 38840272
Identifiers
NCT: NCT06950619 · 2025-DENTALOCULARANOMALIES