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

Morgan, Thomas M.; Colazo, Juan M.; Duncan, Laura; Hamid, Rizwan; Joos, Karen M.

doi:10.1155/2019/9382640

Cited by 3 publications

(1 citation statement)

References 25 publications

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“…The genetic basis of PHACES syndrome is unknown although candidate locus or copy number variations have been reported (Mitchell et al, 2012; Siegel et al, 2013). Also, some overlapping phenotypes have been noted with BCOR variants resulting from oculofaciocardiodental (OFCD) syndrome (Morgan et al, 2019). PHACES syndrome could be a heterogeneous disorder or associated with environmental factors.…”

Section: Discussionmentioning

confidence: 99%

PHACES‐like syndrome with TMEM260 compound heterozygous variants

Kuroda

Saito

Enomoto

et al. 2023

American J of Med Genetics Pt A

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PHACES syndrome is a multiple congenital disorder with unknown etiology that is characterized by Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/coarctation of the aorta, Eye anomalies, and Sternal cleft. Compound heterozygous or homozygous TMEM260 variants cause structural heart defects and renal anomalies syndrome (SHDRA). We describe a 10-year-old male patient with a PHACES-like syndrome and TMEM260 compound heterozygous variants who demonstrated overlapping phenotypes between the two syndromes. He presented with truncus arteriosus, supraumbilical raphe, ophthalmological abnormality, vertebral abnormality, borderline intellectual disability, and hearing loss. He had normal serum creatinine. In proband exome sequencing, compound heterozygous TMEM260 variants (NM_017799.4 c.1617delG p.(Trp539Cysfs*9)/c.1858C > T p.(Gln620*)) were identified. Twelve patients have been reported with TMEM260-related SHDRA: 10 had truncus arteriosus and 6 had renal failure. One previously reported patient had facial port wine nevus and another patient had supraumbilical raphe, which are the cardinal signs for PHACES syndrome. TMEM260-related SHDRA could share overlapping clinical features with PHACES syndrome. This report expands the phenotypic spectrum of a TMEM260-related disorder.

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Section: Discussionmentioning

confidence: 99%

PHACES‐like syndrome with TMEM260 compound heterozygous variants

Kuroda

Saito

Enomoto

et al. 2023

American J of Med Genetics Pt A

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

Mai

Xiang

et al. 2022

BMC Pediatr

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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.

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

Nguyen,

Truong,

Hoang

et al. 2024

J Med Case Reports

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Background Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition that affects the eyes, face, heart, and teeth of patients. One notable dental characteristic of OFCD is radiculomegaly, or root gigantism, which highlights the role of dentists in detecting this syndrome. OFCD is an X-linked dominant syndrome that results from a variant in the BCOR gene. Our study presents the first documented case of OFCD in Vietnam and reports a novel BCOR gene variant observed in this case. Case presentation A 19-year-old Vietnamese female patient with an extremely long root with an abscess was clinically examined for the expression of OFCDs. The radiograph and the variant in BCOR gene were also evaluated. We identified abnormalities in the teeth, as well as ocular, facial, and cardiac features, with radiculomegaly of the canines being a specific symptom for OFCDs. The patient’s genetic analysis revealed a pathogenic heterozygous deletion at intron 11 of the BCOR gene, representing a novel variant. Conclusion Oculo-facio-cardio-dental syndrome (OFCD) is an extremely rare condition characterized by abnormalities in the eyes, face, heart, and teeth, often caused by variants in the BCOR gene. Radiculomegaly, or enlarged dental roots, is a key diagnostic feature of OFCD, and early detection is crucial for preventing future dental complications.

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

Cited by 3 publications

References 25 publications

PHACES‐like syndrome with TMEM260 compound heterozygous variants

PHACES‐like syndrome with TMEM260 compound heterozygous variants

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

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

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