Hostname: page-component-f554764f5-fr72s Total loading time: 0 Render date: 2025-04-23T07:06:29.208Z Has data issue: false hasContentIssue false
  • English
  • Français

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene

Published online by Cambridge University Press:  11 October 2024

Clément Sauvestre Open the ORCID record for Clément Sauvestre [Opens in a new window] ,
Marie-José Boileau ,
Camille Caule ,
Didier Griffiths ,
Florian Schrub ,
Nicolas Chassaing  and
Caroline Rooryck
Clément Sauvestre*
Affiliation:
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France
Marie-José Boileau
Affiliation:
Centre de Compétences des Maladies Rares Orales et Dentaires, CCMR O-Rares, CHU de Bordeaux, Bordeaux, France
Camille Caule
Affiliation:
Centre de Compétences des Maladies Rares Orales et Dentaires, CCMR O-Rares, CHU de Bordeaux, Bordeaux, France
Didier Griffiths
Affiliation:
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France
Florian Schrub
Affiliation:
Polyclinique Bordeaux Nord Aquitaine, Bordeaux, France
Nicolas Chassaing
Affiliation:
Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU de Toulouse, Toulouse, France
Caroline Rooryck
Affiliation:
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France Maladies Rares: Génétique et Métabolisme (MRGM), Univ Bordeaux, Bordeaux, France
*
Corresponding author: Clément Sauvestre; Email: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

Radiculomegaly is a rare dental anomaly characterised by the enlargement of the root canals of teeth. It is usually associated with oculo-facio-cardio-dental (OFCD) syndrome due to truncating variants in BCL-6 transcriptional corepressor (BCOR) (MIM*300485). We present the case of a 21-year-old female patient who was referred to genetics for a polymalformative syndrome including bilateral glaucoma and dental anomalies, especially radiculomegaly. Some others dysmorphic features were right superior lip notch, ogival palate, long philtrum, difficulty in pronation, café-au-lait spots, II-III toe bilateral syndactyly, and macrocephaly. Cone-beam CT confirmed radiculomegaly. The genetic analysis identified a heterozygous pathogenic variant NM_001123385.1:c.2093del (p.Pro698Glnfs*17) in the BCOR gene. After genetic diagnosis of OFCD syndrome, cardiac CT-scan revealed a large asymptomatic atrial septal defect that was subsequently surgically closed. Reviews of the literature have previously highlighted the prevalence of radiculomegaly in OFCD syndrome with a positive predictive value of 88.23% and a sensitivity of 75.94%. This case report highlights the importance of radiculomegaly as a clinical sign of OFCD syndrome, emphasising the rarity of non-syndromic radiculomegaly and the benefits of its diagnosis in clinical management, especially in cardiac screening.

Keywords

radiculomegalyBCOR geneoculo-facio-cardio-dental syndromemicrophthalmia syndromic type 2
Type
Original Article
Information
Cardiology in the Young , Volume 34 , Issue 12 , December 2024 , pp. 2606 - 2609
Check for updates
Copyright
© The Author(s), 2024. Published by Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

Footnotes

Presented as a poster at EuroDysmorpho 2023 – 33rd European Meeting on Dysmorphology, ERN ITHACA

References

Smith, MH, Cohen, DM, Bhattacharyya, I, Islam, NM, Kashtwari, D. Radiculomegaly: a case report of this rare dental finding with review of the associated oculo-facio-cardio-dental syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol 2018; 126: e220–e227.CrossRefGoogle ScholarPubMed
Marashi, AH, Gorlin, RJ. Radiculomegaly of canines and congenital cataracts—A syndrome? Oral Surg Oral Med Oral Pathol 1990; 70: 802–803.CrossRefGoogle ScholarPubMed
Hu, Q, Mai, J, Xiang, Q, Zhou, B, Liu, S, Wang, J. A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report. BMC Pediatr 2022; 22: 82.CrossRefGoogle ScholarPubMed
Davoody, A, Chen, IP, Nanda, R, Uribe, F, Reichenberger, EJ. Oculofaciocardiodental syndrome: a rare case and review of the literature. Cleft Palate Craniofac J Off Publ Am Cleft Palate-Craniofacial Assoc 2012; 49: e55–60.CrossRefGoogle ScholarPubMed
Ragge, N, Isidor, B, Bitoun, P et al. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. Hum Genet 2019; 138: 1051–1069.CrossRefGoogle ScholarPubMed
Al-Obaida, M. A rare case of nonsyndromic generalized radiculomegaly with a literature review. Case Rep Dent 2020; 2020: 1–7.Google ScholarPubMed
Wilkie, GJ, Chambers, IG. A very large maxillary cuspid. Oral Surg Oral Med Oral Pathol 1990; 70: 159–160.CrossRefGoogle ScholarPubMed
Fujimura, A, Suetsugu, H, Onodera, M, Nozaka, K, Nozaka, Y. Long root of deciduous anterior teeth. Odontology 2008; 96: 61–64.CrossRefGoogle ScholarPubMed
Hayward, JR. Cuspid gigantism. Oral surg oral med oral pathol. 1980; 49: 500–501.CrossRefGoogle Scholar
Kemoli, A, Munyao, T. Bilateral second premolars agenesia together with a unilateral canine radiculomegaly. Contemp Clin Dent 2017; 8: 151.CrossRefGoogle ScholarPubMed
Alhussain, M, Almosa, N, Alnofaie, H. Nonsyndromic Generalized Radiculomegaly of Permanent Dentition:A Rare Case Report. In: Mergoni, G (eds). Case Rep Dent, 2022: 1–6.Google Scholar
Weine, FS. A very long cuspid!. J Endod 1986; 12: 80–81.CrossRefGoogle ScholarPubMed
Baranwal, A, Gurney, M, Basmaci, R et al. Genetic landscape and clinical outcomes of patients with BCOR mutated myeloid neoplasms. Haematologica [Internet] 2020; 109: 1779–1791. [cited 2024 Mar 2]; Available from:, https://haematologica.org/article/view/haematol.2023.284185 Google Scholar
Barresi, V, Cardoni, A, Miele, E et al. CNS tumor with CREBBP: BCORL1 fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumors. Acta Neuropathol Commun 2024; 12: 8.CrossRefGoogle ScholarPubMed
Lavelle, CLB. Maxillary and mandibular tooth size in different racial groups and in different occlusal categories. Am J Orthod 1972; 61: 29–37.CrossRefGoogle ScholarPubMed
Wasserman, MA, Shea, E, Cassidy, C et al. Recommendations for the adult cardiac sonographer performing echocardiography to screen for critical congenital heart disease in the newborn: from the American Society of echocardiography. J Am Soc Echocardiogr Off Publ Am Soc Echocardiogr 2021; 34: 207–222.CrossRefGoogle ScholarPubMed
Ng, D, Thakker, N, Corcoran, CM et al. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 2004; 36: 411–416.CrossRefGoogle ScholarPubMed
Schwaibold, EMC, Brugger, M, Wagner, M. A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia. Clin Genet 2021; 100: 489–490.CrossRefGoogle Scholar
Astolfi, A, Fiore, M, Melchionda, F, Indio, V, Bertuccio, SN, Pession, A. BCOR involvement in cancer. Epigenomics 2018; 11: 835–855.Google Scholar
Pisapia, DJ, Ohara, K, Bareja, R et al. Fusions involving BCOR and CREBBP are rare events in infiltrating glioma. Acta Neuropathol Commun 2020; 8: 80.CrossRefGoogle ScholarPubMed
Hamline, MY, Corcoran, CM, Wamstad, JA et al. OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR. Dev Biol 2020; 468: 110–132.CrossRefGoogle ScholarPubMed
Min Soe, K, Ogawa, T, Moriyama, K. Molecular mechanism of hyperactive tooth root formation in oculo-facio-cardio-dental syndrome. Front Physiol 2022; 13: 946282.CrossRefGoogle ScholarPubMed
Marashi, AH, Gorlin, RJ. Radiculomegaly of canine teeth and congenital cataracts: confirmation of a syndrome. Am J Med Genet. 1992; 42: 143–143.CrossRefGoogle ScholarPubMed