NDLI: Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants

Content Provider	Springer Nature : BioMed Central
Author	Batkova, M. Havlovicova, M. Nocar, A. Dudakova, L. Macek, M. Liskova, Petra Dostalova, Tatjana
Abstract	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 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.(Lys795Argfs12) and c.3914dup p.(Gln1306Alafs20) and co-segregated with the disease in each family. 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.
Related Links	https://bmcoralhealth.biomedcentral.com/counter/pdf/10.1186/s12903-024-05005-y.pdf
Ending Page	8
Page Count	8
Starting Page	1
File Format	HTM / HTML
ISSN	14726831
DOI	10.1186/s12903-024-05005-y
Journal	BMC Oral Health
Issue Number	1
Volume Number	24
Language	English
Publisher	BioMed Central
Publisher Date	2024-10-22
Access Restriction	Open
Subject Keyword	Dentistry Oral and Maxillofacial Surgery BCOR Dental anomalies Congenital cataract Novel pathogenic variants OFCD syndrome Syndromic microphthalmia-2 radiculomegaly
Content Type	Text
Resource Type	Case study
Subject	Dentistry
Journal Impact Factor	2.6/2023
5-Year Journal Impact Factor	3.2/2023

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