Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant
- 164 Downloads
To report a case of OFCD associated with a de novo BCOR pathogenic variant and highlight the ocular findings and possible mechanisms.
A retrospective chart review of the patient’s ocular and systemic findings was performed. The patient underwent diagnostic whole exome sequencing (WES).
The patient had a comprehensive eye exam in infancy demonstrating bilateral congenital cataracts consisting of posterior lenticonus with a posterior cortical opacity. She also had blepharoptosis with a hooded appearance and retinal pigment hypertrophy of the inferior retina bilaterally. Systemic findings include atrial septal defect, patent ductus arteriosus, congenital clubfoot, syndactyly, tethered cord, and laryngeal cleft. WES identified a de novo heterozygous R1136X pathogenic variant in the BCOR gene.
The typical ocular manifestation of OFCD syndrome is congenital cataracts, which can have a significant impact on visual development and so should be considered in patients with multiple medical issues that may fit the diagnosis. A comprehensive eye exam in these patients is thus warranted.
KeywordsOculofaciocardiodental (OFCD) syndrome Congenital cataract BCOR BCL6
The authors would like to thank Hanta Ralay-Ranaivo, Ph.D. for her assistance with the coordination of manuscript production.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
Informed consent was obtained from all individual participants included in this article. Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.
The patient’s parent has consented to the submission of this case report for journal publication.
- 1.Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG (2004) Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 36(4):411–416. doi: 10.1038/ng1321 CrossRefPubMedGoogle Scholar
- 4.Gorlin RJ, Marashi AH, Obwegeser HL (1996) Oculo-facio-cardio-dental (OFCD) syndrome. Am J Med Genet 63(1):290–292. doi: 10.1002/(SICI)1096-8628(19960503)63:1<290:AID-AJMG47>3.0.CO;2-G CrossRefPubMedGoogle Scholar
- 6.Fan Z, Yamaza T, Lee JS, Yu J, Wang S, Fan G, Shi S, Wang C-Y (2009) BCOR regulates mesenchymal stem cell function by epigenetic mechanisms. Nat Cell Biol 11 (8):1002–1009. http://www.nature.com/ncb/journal/v11/n8/suppinfo/ncb1913_S1.html CrossRefGoogle Scholar
- 7.Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G (2009) BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet 17(10):1325–1335. doi: 10.1038/ejhg.2009.52 CrossRefPubMedPubMedCentralGoogle Scholar
- 11.Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ryoo NK, Kim JH, Yu YS, Matsumoto N (2012) A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. J Hum Genet 57(3):197–201. doi: 10.1038/jhg.2012.4 CrossRefPubMedGoogle Scholar
- 12.Feberwee HE, Feenstra I, Oberoi S, Sama IE, Ockeloen CW, Clum F, Slavotinek A, Kuijpers MA, Dooijes D, Kuijpers-Jagtman AM, Kleefstra T, Carels CE (2014) Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. Clin Genet 85(2):194–197. doi: 10.1111/cge.12125 CrossRefPubMedGoogle Scholar
- 15.Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel G-K, Korenke GC, Ries A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K (2005) Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet 13(5):563–569CrossRefGoogle Scholar