Oculo-facio-cardio-dental syndrome caused by the <i>BCOR</i> gene: a systematic review_Chinese Journal of Evidence-Based Medicine

Authors：

YANG Zhibo ¹ , GU Qiumei ² , CHEN Zhengju ³ , WANG Qiushi ⁴ ,  CHEN Lei ^5,6

1. Department of Evidence Based Nursing Center, West China Hospital of Sichuan University, Chengdu 610041, P. R. China;
2. Department of Optometry & Visual Science, West China Hospital of Sichuan University, Chengdu 610041, P. R. China;
3. Huaxi MR Research Center (HMRRC), Department of Radiology, West China Hospital of Sichuan University, Chengdu 610041, P. R. China;
4. West China Hospital of Stomatology, Sichuan University, Chengdu 610041, P. R. China;
5. Department of Neurology, West China Hospital of Sichuan University, Chengdu 610041, P. R. China;
6. Joint Institute for Altitude Health, West China Hospital of Sichuan University, Chengdu 610041, P. R. China;

Corresponding author：

CHEN Lei, Email: leilei_25@126.com

Keywords：

Oculo-facio-cardio-dental syndrome; BCOR gene; Female; Developmental abnormality; Systewatic review

DOI：

10.7507/1672-2531.202204032

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Objective To systematically review the clinical presentations and gene types of oculo-facio-cardio-dental (OFCD) syndrome and to provide a theoretical basis for future diagnosis, prevention, and treatment of the disease. Methods The PubMed, EMbase, The Cochrane Library, Web of Science, CBM, WanFang Data, and CNKI databases were electronically searched to collect studies on OFCD syndrome published from inception to March 1^st, 2022. Two reviewers independently screened the literature, extracted data, and assessed the risk of bias of the included studies. A systematic review was then performed. Results A total of 19 studies involving 83 patients with OFCD syndrome were included. The patients had an average age of 15.95±16.03 years, including 5 males and 78 females. The clinical presentations mainly included ocular disorders, facial abnormalities, cardiac disorders, dental abnormalities, physical anomalies, and dysfunctions of other body systems. BCOR gene mutations were detected in 71 patients with OFCD syndrome (overall detection rate: 86%, 95%CI 78% to 93%), of whom five were males (detection rate: 6%, 95%CI 1% to 11%) and 66 were females (detection rate: 80%, 95%CI 71% to 88%). Patients were mostly treated using multidisciplinary symptomatic treatment approaches based on clinical presentations and imaging findings. Conclusion In addition to the typical clinical presentations, BCOR gene testing results should also be taken into consideration for the differential diagnosis of OFCD syndrome. Although symptomatic therapies in clinical practice are relatively mature, they do not address the underlying cause of the disease, i.e., BCOR gene mutations. In future research, greater attention should be diverted to gene therapy.

Citation： YANG Zhibo, GU Qiumei, CHEN Zhengju, WANG Qiushi, CHEN Lei. Oculo-facio-cardio-dental syndrome caused by the BCOR gene: a systematic review. Chinese Journal of Evidence-Based Medicine, 2022, 22(11): 1279-1286. doi: 10.7507/1672-2531.202204032 Copy

1.	Opitz C, Horn D, Lehmann R, et al. Oculo-facio-cardio-dental (OFCD) syndrome. J Orofac Orthop, 1998, 59(3): 178-185.
2.	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(1-2): 110-132.
3.	Gorlin RJ, Marashi AH, Obwegeser HL. Oculo-facio-cardio-dental (OFCD) syndrome. Am J Med Genet, 1996, 63(1): 290-292.
4.	张景尚, 万修华. 眼面心牙综合征的研究进展. 国际眼科纵览, 2016, 40(3): 213-216.
5.	JBI. JBI's critical appraisal tools assist in assessing the trustworthiness, relevance and results of published papers. Available at: https://jbi.global/critical-appraisal-tools.
6.	Gorlin RJ. Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist. Pediatr Radiol, 1998, 28(10): 802-804.
7.	Hedera P, Gorski JL. Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant inheritance. Am J Med Genet A, 2003, 123A(3): 261-266.
8.	Myat AB, Ogawa T, Kadota-Watanabe C, et al. Nuclear import of transcriptional corepressor BCOR occurs through interaction with karyopherin α expressed in human periodontal ligament. Biochem Biophys Res Commun, 2018, 507(1-4): 67-73.
9.	Zhang J, Jia H, Wang J, et al. A novel deletion mutation, c. 1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome. Sci China Life Sci, 2019, 62(1): 119-125.
10.	Gaur A, Ojha S. Oculo-facio-cardio dental syndrome. Indian Pediatr, 2015, 52(11): 993.
11.	Oh SH, Kang JH, Kang JH, et al. Radiculomegaly of canines in oculofaciocardiodental syndrome. Oral Radiol, 2019, 35(3): 326-330.
12.	Larhant M, Sourice S, Grimaud F, et al. Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome. J Craniomaxillofac Surg, 2014, 42(4): 321-324.
13.	O'Byrne JJ, Laffan E, Murray DJ, et al. Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. Am J Med Genet A, 2017, 173(5): 1374-1377.
14.	Maden M, Savgat A, Görgül G. Radiculomegaly of permanent canines: report of endodontic treatment in OFCD syndrome. Int Endod J, 2010, 43(12): 1152-1161.
15.	Martinho J, Ferreira H, Paulo S, et al. Oculo-facio-cardio-dental syndrome: a case report about a rare pathological condition. Int J Environ Res Public Health, 2019, 16(6): 928.
16.	Pace R, Giuliani V, Pagavino G. Endodontic management in oculo-facio-cardio-dental syndrome: a case report. J Endod, 2011, 37(4): 558-561.
17.	Di Stefano C, Lombardo B, Fabbricatore C, et al. Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion. Gene, 2015, 559(2): 203-206.
18.	Zhou Y, Wojcik A, Sanders VR, et al. Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant. Int Ophthalmol, 2018, 38(6): 2677-2682.
19.	Atiq M, Gong Y, Raju GS, et al. Pancreatic endocrine microadenomatosis in a patient with oculofaciocardiodental (OFCD) syndrome. Pancreas, 2012, 41(2): 327-329.
20.	Feberwee HE, Feenstra I, Oberoi S, et al. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. Clin Genet, 2014, 85(2): 194-197.
21.	Sakaguchi K, Yagi T, Nagata J, et al. Patient with oculo-facio-cardio-dental syndrome treated with surgical orthodontics. Am J Orthod Dentofacial Orthop, 2012, 141(4 Suppl): S159-170.
22.	Kato J, Kushima K, Kushima F. New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: a case report. Medicine (Baltimore), 2018, 97(49): e13444.
23.	Tsukawaki H, Tsuji M, Kawamoto T, et al. Three cases of oculo-facio-cardio-dental (OFCD) syndrome. Cleft Palate Craniofac J, 2005, 42(5): 467-476.
24.	Kondo Y, Saitsu H, Miyamoto T, et al. A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. J Hum Genet, 2012, 57(3): 197-201.
25.	Redwood A, Douzgou S, Waller S, et al. Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms. Eur J Med Genet, 2020, 63(2): 103658.
26.	Ragge N, Isidor B, Bitoun P, et al. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. Hum Genet, 2019, 138(8-9): 1051-1069.
27.	Hilton E, Johnston J, Whalen S, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet, 2009, 17(10): 1325-1335.
28.	刘加乘, 程惠凤, 刘若海, 等. 小眼球综合征. 中国实用眼科杂志, 2006, 24(7): 767-768.

1. Opitz C, Horn D, Lehmann R, et al. Oculo-facio-cardio-dental (OFCD) syndrome. J Orofac Orthop, 1998, 59(3): 178-185.
2. 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(1-2): 110-132.
3. Gorlin RJ, Marashi AH, Obwegeser HL. Oculo-facio-cardio-dental (OFCD) syndrome. Am J Med Genet, 1996, 63(1): 290-292.
4. 张景尚, 万修华. 眼面心牙综合征的研究进展. 国际眼科纵览, 2016, 40(3): 213-216.
5. JBI. JBI's critical appraisal tools assist in assessing the trustworthiness, relevance and results of published papers. Available at: https://jbi.global/critical-appraisal-tools.
6. Gorlin RJ. Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist. Pediatr Radiol, 1998, 28(10): 802-804.
7. Hedera P, Gorski JL. Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant inheritance. Am J Med Genet A, 2003, 123A(3): 261-266.
8. Myat AB, Ogawa T, Kadota-Watanabe C, et al. Nuclear import of transcriptional corepressor BCOR occurs through interaction with karyopherin α expressed in human periodontal ligament. Biochem Biophys Res Commun, 2018, 507(1-4): 67-73.
9. Zhang J, Jia H, Wang J, et al. A novel deletion mutation, c. 1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome. Sci China Life Sci, 2019, 62(1): 119-125.
10. Gaur A, Ojha S. Oculo-facio-cardio dental syndrome. Indian Pediatr, 2015, 52(11): 993.
11. Oh SH, Kang JH, Kang JH, et al. Radiculomegaly of canines in oculofaciocardiodental syndrome. Oral Radiol, 2019, 35(3): 326-330.
12. Larhant M, Sourice S, Grimaud F, et al. Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome. J Craniomaxillofac Surg, 2014, 42(4): 321-324.
13. O'Byrne JJ, Laffan E, Murray DJ, et al. Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. Am J Med Genet A, 2017, 173(5): 1374-1377.
14. Maden M, Savgat A, Görgül G. Radiculomegaly of permanent canines: report of endodontic treatment in OFCD syndrome. Int Endod J, 2010, 43(12): 1152-1161.
15. Martinho J, Ferreira H, Paulo S, et al. Oculo-facio-cardio-dental syndrome: a case report about a rare pathological condition. Int J Environ Res Public Health, 2019, 16(6): 928.
16. Pace R, Giuliani V, Pagavino G. Endodontic management in oculo-facio-cardio-dental syndrome: a case report. J Endod, 2011, 37(4): 558-561.
17. Di Stefano C, Lombardo B, Fabbricatore C, et al. Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion. Gene, 2015, 559(2): 203-206.
18. Zhou Y, Wojcik A, Sanders VR, et al. Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant. Int Ophthalmol, 2018, 38(6): 2677-2682.
19. Atiq M, Gong Y, Raju GS, et al. Pancreatic endocrine microadenomatosis in a patient with oculofaciocardiodental (OFCD) syndrome. Pancreas, 2012, 41(2): 327-329.
20. Feberwee HE, Feenstra I, Oberoi S, et al. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. Clin Genet, 2014, 85(2): 194-197.
21. Sakaguchi K, Yagi T, Nagata J, et al. Patient with oculo-facio-cardio-dental syndrome treated with surgical orthodontics. Am J Orthod Dentofacial Orthop, 2012, 141(4 Suppl): S159-170.
22. Kato J, Kushima K, Kushima F. New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: a case report. Medicine (Baltimore), 2018, 97(49): e13444.
23. Tsukawaki H, Tsuji M, Kawamoto T, et al. Three cases of oculo-facio-cardio-dental (OFCD) syndrome. Cleft Palate Craniofac J, 2005, 42(5): 467-476.
24. Kondo Y, Saitsu H, Miyamoto T, et al. A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. J Hum Genet, 2012, 57(3): 197-201.
25. Redwood A, Douzgou S, Waller S, et al. Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms. Eur J Med Genet, 2020, 63(2): 103658.
26. Ragge N, Isidor B, Bitoun P, et al. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. Hum Genet, 2019, 138(8-9): 1051-1069.
27. Hilton E, Johnston J, Whalen S, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet, 2009, 17(10): 1325-1335.
28. 刘加乘, 程惠凤, 刘若海, 等. 小眼球综合征. 中国实用眼科杂志, 2006, 24(7): 767-768.

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