Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.
Humans
Female
Tooth Abnormalities
/ genetics
Czech Republic
Microphthalmos
/ genetics
Proto-Oncogene Proteins
/ genetics
Repressor Proteins
/ genetics
Child
Heart Defects, Congenital
/ genetics
Pedigree
Adolescent
Cataract
/ genetics
Phenotype
Eye Abnormalities
/ genetics
Abnormalities, Multiple
/ genetics
Radiography, Panoramic
Adult
Heart Septal Defects
Genetic Diseases, X-Linked
BCOR
Congenital cataract
Dental anomalies
Novel pathogenic variants
OFCD syndrome
Syndromic microphthalmia-2 radiculomegaly
Journal
BMC oral health
ISSN: 1472-6831
Titre abrégé: BMC Oral Health
Pays: England
ID NLM: 101088684
Informations de publication
Date de publication:
22 Oct 2024
22 Oct 2024
Historique:
received:
02
06
2024
accepted:
03
10
2024
medline:
23
10
2024
pubmed:
23
10
2024
entrez:
22
10
2024
Statut:
epublish
Résumé
The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families. Dental examinations were carried out. An orthopantomogram was taken in three patients, and all patients' intraoral cavities and teeth were photographed. Exome sequencing was performed in both probands. Results were validated by Sanger DNA sequencing which was also used to follow segregation of the variants in first-degree relatives. Dental abnormalities and congenital cataracts were present in all five cases, whilst other signs were variable and included facial dysmorphism, microphthalmia, and cardiac and skeletal abnormalities. Two individuals had cleft lip and/or cleft palate. Radiculomegaly occurred in three patients with permanent teeth and was diagnosed on orthopantomograms. Two patients had agenesis of permanent teeth. Malocclusion was also present in two patients due to crowding and a Class III malocclusion and mandibular overjet. De novo novel pathogenic variants in the BCOR gene were identified; c.2382del p.(Lys795Argfs*12) and c.3914dup p.(Gln1306Alafs*20) and co-segregated with the disease in each family. The OFCD syndrome has a unique dental phenotype and dentists should be aware of signs of this ultra-rare genetic disorder. All patients with congenital cataracts and dental abnormalities, including those without a family history, should be referred for genetic testing and indicated to specialised dental care.
Sections du résumé
BACKGROUND
BACKGROUND
The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families.
CASE PRESENTATION
METHODS
Dental examinations were carried out. An orthopantomogram was taken in three patients, and all patients' intraoral cavities and teeth were photographed. Exome sequencing was performed in both probands. Results were validated by Sanger DNA sequencing which was also used to follow segregation of the variants in first-degree relatives. Dental abnormalities and congenital cataracts were present in all five cases, whilst other signs were variable and included facial dysmorphism, microphthalmia, and cardiac and skeletal abnormalities. Two individuals had cleft lip and/or cleft palate. Radiculomegaly occurred in three patients with permanent teeth and was diagnosed on orthopantomograms. Two patients had agenesis of permanent teeth. Malocclusion was also present in two patients due to crowding and a Class III malocclusion and mandibular overjet. De novo novel pathogenic variants in the BCOR gene were identified; c.2382del p.(Lys795Argfs*12) and c.3914dup p.(Gln1306Alafs*20) and co-segregated with the disease in each family.
CONCLUSIONS
CONCLUSIONS
The OFCD syndrome has a unique dental phenotype and dentists should be aware of signs of this ultra-rare genetic disorder. All patients with congenital cataracts and dental abnormalities, including those without a family history, should be referred for genetic testing and indicated to specialised dental care.
Identifiants
pubmed: 39438869
doi: 10.1186/s12903-024-05005-y
pii: 10.1186/s12903-024-05005-y
doi:
Substances chimiques
BCOR protein, human
0
Proto-Oncogene Proteins
0
Repressor Proteins
0
Types de publication
Journal Article
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1264Subventions
Organisme : European Accounting Association
ID : ZD-ZDOVA2-001
Organisme : Grantová Agentura České Republiky
ID : 24-10324S
Organisme : Agentura Pro Zdravotnický Výzkum České Republiky
ID : NW24-06-00083
Informations de copyright
© 2024. The Author(s).
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