A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report

Abstract

Background Oculo-facio-cardio-dental syndrome is a rare X-linked dominant syndrome, characterized by radiculomegaly, congenital cataracts, dysmorphic facial features, and congenital heart disease. Because of the rarity, this syndrome could be misdiagnosed by the clinician, especially for the infant who may present only one to two systems involved. Case presentation Here we report a 3-month-old female infant presenting with typical clinical manifestations of oculo-facio-cardio-dental syndrome, like ocular, facial, cardiac, and skeletal abnormalities, and the genetic analyses of the proband and her parents were provided. Genetic evaluations were completed using whole exon sequencing, which revealed a novel heterozygous mutation between exons 7 and 14 of the BCOR gene(OMIM:300485) in this patient but not in her parents. This mutation is likely to encode a premature stop codon producing a truncated protein. Our patient was diagnosed early enough to allow for the cardiac defects to be treated first, and she will be closely followed up to ensure that any new presentations are treated in a timeous manner. Conclusion This patient fits the diagnostic criteria for oculo-facio-cardio-dental syndrome and is the youngest oculo-facio-cardio-dental syndrome patient ever reported, which is most important for her prognosis. In addition, this manuscript also describes a novel potenitally causative mutation for this syndrome.

Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review

“…Another syndrome we examined was oculofaciocardiodental syndrome, a rare multi-systemic anomaly, with a higher prevalence in females. This syndrome showcases the intricate interplay between congenital cataracts, facial dysmorphisms, and dental anomalies, including radiculomegaly and oligodontia, in addition to congenital heart defects [77,112]. In our study, we noted an average of nine permanent teeth (three cases) missing in individuals with reported WNT10A mutations.…”

Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome

“…The most common ophthalmic manifestations are congenital cataract and microphthalmia, although anterior segment dysgenesis, secondary glaucoma, coloboma, and anophthalmia have also been reported. 4 , 5 Regarding vitreoretinal pathology, two patients were previously found to have focal chorioretinal hyperpigmentation, but further retinal characterization by multimodal imaging was not performed. 5 , 6 We herein report a case of OFCD syndrome with congenital cataracts, microphthalmia, secondary glaucoma, foveal photoreceptor atrophy, focal chorioretinal hyperpigmentation, and persistent fetal vasculature.…”

Oculo-facio-cardio-dental (OFCD) syndrome: a case report

“…Despite the presence of characteristic symptoms affecting the facial structures and teeth of patients, the rarity of the condition may increase the likelihood of misdiagnosis by physicians as other disorders [ 6 , 7 ].…”