Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant

Zhou, Yujia; Wojcik, Antonina; Sanders, Victoria R.; Rahmani, Bahram; Kurup, Sudhi P.

doi:10.1007/s10792-017-0754-5

Cited by 15 publications

(18 citation statements)

References 16 publications

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“…Note . OFCD, N = 66: Danda et al, ; Di Stefano et al, ; Feberwee et al, ; Hilton et al, ; Horn et al, ; Kondo et al, ; Lozic et al, ; Ma et al, ; Ng et al, ; O'Byrne et al, ; Surapornsawasd et al, ; Zhou et al, .…”

Section: Resultsunclassified

“…BCOR belongs to the growing number of X‐chromosomal genes in which mutations cause allelic, overlapping but still distinct phenotypes in females and males. More than 65 females with OFCD carrying a heterozygous null allele of BCOR have been reported in literature up to date (Danda et al, ; Di Stefano et al, ; Feberwee et al, ; Hilton et al, ; Horn et al, ; Kondo et al, ; Ma et al, ; Ng et al, ; O'Byrne et al, ; Surapornsawasd et al, ; Zhou et al, ). In contrast, only four males and one aborted fetus from three families with Lenz microphthalmia have been reported.…”

Section: Discussionmentioning

confidence: 99%

“…This phenotype includes variable microphthalmia, congenital cataracts, facial dysmorphism along with cardiac, dental, and skeletal anomalies. Intelligence is normal in the majority of affected individuals (Danda et al, ; Di Stefano et al, ; Feberwee et al, ; Hilton et al, ; Horn et al, ; Kondo et al, ; Lozic et al, ; Ma et al, ; Ng et al, ; O'Byrne, Laffan, Murray, & Reardon, ; Surapornsawasd, Ogawa, Tsuji, & Moriyama, ; Zhou, Wojcik, Sanders, Rahmani, & Kurup, ). Truncating mutations in females occur either de novo or are inherited in an X‐linked dominant pattern.…”

Section: Introductionmentioning

confidence: 99%

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Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Kraus

Uebe

Thiel

et al. 2018

American J of Med Genetics Pt A

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Mutations in BCOR cause X‐linked dominant and X‐linked recessive forms of syndromic microphthalmia. By exome sequencing, we identified the recurrent BCOR mutation p.Pro85Leu in two brothers and their unaffected mother. While the older brother's phenotype completely fits the described phenotypic spectrum of X‐linked recessive BCOR‐associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of microphthalmia. In contrast to the previously published families, our findings demonstrate a large variability of BCOR‐associated, syndromic phenotypes, indicating incomplete penetrance of p.Pro85Leu with regards to microphthalmia in males.

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Section: Resultsunclassified

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Kraus

Uebe

Thiel

et al. 2018

American J of Med Genetics Pt A

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“…BCOR copy number reductions and focal deletions have been reported rarely in retinoblastomas, especially occurring later in childhood [21,22]. e presence of bilateral multifocal CHRPE, which may warrant continued ophthalmic monitoring, has been reported in one other case of OFCD syndrome [23].…”

Section: Discussionmentioning

confidence: 99%

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

Morgan

Colazo

Duncan

et al. 2019

Case Reports in Genetics

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Background. Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. A previous study reported two cases of infantile hemangiomas in OFCD, but the authors could not exclude chance association. Case Presentation. We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. Conclusion. These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation.

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“…Due to the risk of corneal keloid formation contact lenses use is not recommended (53). Conversely, OFCD syndrome an X-linked dominant disorder, lead to male lethality, while affected females may present congenital cataracts, isolated or associated with other ocular or extraocular findings as unilateral/bilateral microphthalmia, facial dysmorphism, cardiac defects, or dental anomalies (54). OFCD syndrome is caused by a variety of truncating BCOR variants, predicted to result in nonsense mediated mRNA decay (55)(56)(57)(58).…”

Section: Gene Mutations Associated To Syndromic Congenital Cataractsmentioning

confidence: 99%

Recent developments in the management of congenital cataract

Brémond‐Gignac¹,

Daruich²,

Robert³

et al. 2020

Ann Transl Med

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Congenital cataract is a rare eye disease, one of the leading treatable causes of low vision in children worldwide. Hereditary cataracts can be divided in syndromic and non-syndromic cataracts. Early diagnosis in congenital cataracts is key to reach good visual function. Current surgical techniques, that combine microincision cataract extraction and primary intraocular lens (IOL) implantation, have improved childhood cataract outcome. Complications include posterior capsule opacification (PCO), aphakic or pseudophakic glaucoma, uveitis, pupil displacement and IOL decentration. A recent study using a modified Delphi approach identified areas of consensus and disagreement in the management of pediatric cataract. A consensus or near consensus was achieved for 79% of the questions, however 21% of the questions remained controversial, as for IOL implantation strategy. Congenital cataracts show a highly variable phenotype and genotype, and can be related to different mutations, genetic variance, and other risk factors. Congenital cataracts can be associated with other ocular developmental abnormalities, including microphthalmia, microcornea, or aniridia and with systemic findings. Next-generation sequencing (NGS) and forthcoming new ultra-high-throughput sequencing represent excellent tools to investigate the genetic causes of congenital cataracts. A better recognition of different clinical presentations and underlying etiologies of congenital cataracts may lead to the development of new approaches to improve visual outcome after cataract surgery and promote early detection of systemic associated syndromes.

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Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant

Cited by 15 publications

References 16 publications

Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

Recent developments in the management of congenital cataract

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