Case reports of oculofaciocardiodental syndrome with unusual dental findings

Oberoi, Snehlata; Winder, Alison; Johnston, Jennifer J.; Vargervik, Karin; Slavotinek, Anne

doi:10.1002/ajmg.a.30811

Cited by 43 publications

(41 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…9 In ocu lo fa ci o car di o den tal syndro me, den tal ab norma li ti es ac com pany ocu lar, fa ci al and car di ac abnor ma li ti es. 10 When we exa mi ne all of the se syndro mes, only the he a ring loss and/or den tal abnor ma li ti es show si mi la rity to our ca se.…”

Section: Discussionunclassified

A Case with Neurosensorial Hearing Loss and Anodonty Findings: Is This a Variant of Otodental Syndrome?

Torun¹,

Guran²,

Karahatay³

et al. 2010

Turkiye Klinikleri J Med Sci

View full text Add to dashboard Cite

Section: Discussionunclassified

A Case with Neurosensorial Hearing Loss and Anodonty Findings: Is This a Variant of Otodental Syndrome?

Torun¹,

Guran²,

Karahatay³

et al. 2010

Turkiye Klinikleri J Med Sci

View full text Add to dashboard Cite

“…BCOR is a key transcription regulator during early embryonic development (Ng et al, 2004). Null mutations in BCOR are the sole cause of the X-linked dominant Mendelian disorder oculofaciocardiodental (OFCD) syndrome (Ng et al, 2004;Hilton et al, 2009), which results in dental abnormalities including radiculomegaly, hypodontia, fusion and duplication of teeth, persistent primary teeth, delayed tooth development and eruption, and defective tooth enamel, as well as other developmental defects (e.g., microphthalmia, congenital cataracts, cardiac and digital defects) (Schulze et al, 1999;Oberoi et al, 2005). Bcor expression was observed during mouse development in multiple tissues that are affected in OFCD patients (Wamstad and Bardwell, 2007), and normal Bcor expression is required for differentiation of multiple tissue lineages (Wamstad et al, 2008).…”

Section: Pf-surface Gwasmentioning

confidence: 99%

Genome-wide Association Studies of Pit-and-Fissure- and Smooth-surface Caries in Permanent Dentition

et al. 2013

View full text Add to dashboard Cite

While genetics clearly influences dental caries risk, few caries genes have been discovered and validated. Recent studies have suggested differential genetic factors for primary dentition caries and permanent dentition caries, as well as for pit-and-fissure-(PF) and smooth-(SM) surface caries. We performed separate GWAS for caries in permanent-dentition PF surfaces (1,017 participants, adjusted for age, sex, and the presence of Streptococcus mutans) and SM surfaces (1,004 participants, adjusted for age, education group, and the presence of Streptococcus mutans) in self-reported whites (ages 14 to 56 yrs). Caries scores were derived based on visual assessment of each surface of each tooth; more than 1.2 million SNPs were either successfully genotyped or imputed and were tested for association. Two homologous genes were suggestively associated: BCOR (Xp11.4) in PF-surface caries (p value = 1.8E-7), and BCORL1 (Xq26.1) in SM-surface caries (p value = 1.0E-5). BCOR mutations cause oculofaciocardiodental syndrome, a Mendelian disease involving multiple dental anomalies. Associations of other plausible cariogenesis genes were also observed for PF-surface caries (e.g., INHBA, p value = 6.5E-6) and for SM-surface caries (e.g., CXCR1 and CXCR2, p value = 1.9E-6). This study supports the notion that genes differentially affect cariogenesis across the surfaces of the permanent dentition, and nominates several novel genes for investigation.

show abstract

“…OFCD comprises microphthalmia, congenital cataracts, radiculomegaly, and cardiac and digital abnormalities (Ng et al 2004). Moreover, dental disorders caused by OFCD have also been reported (Hilton et al 2007;Oberoi et al 2005). Interestingly, knockdown of the zebrafish (Danio rerio) ortholog of BCOR causes developmental perturbations of the eye, skeleton, and central nervous system; these characteristics are consistent with the human syndrome and suggest that BCOR is a key transcriptional regulator in early embryogenesis (Ng et al 2004).…”

Section: Introductionmentioning

confidence: 79%

“…Thus, this RNAi approach is likely to be a useful application in several model systems for further gene function studies. Mutations in BCOR cause OFCD, which is characterized by exceptionally long tooth roots (Hilton et al 2007;Ng et al 2004;Oberoi et al 2005;Wamstad and Bardwell 2007). In this study, we have performed tooth germ transplantation into the kidney to confirm the function of Bcor by knocking down the Bcor.…”

Section: Discussionmentioning

confidence: 99%

Function analysis of mesenchymal Bcor in tooth development by using RNA interference

et al. 2010

View full text Add to dashboard Cite

Teeth, an excellent model for studying organogenesis, develop from a series of epithelial-mesenchymal interactions that are mediated by a complex molecular network. Bcor (BCL-6 interacting corepressor) has recently been discovered, but little is known about its function in tooth development. Mutations in BCOR affect humans with oculofaciocardiodental syndrome, which is an X-linked dominant disorder with presumed male lethality and which comprises microphthalmia, congenital cataracts, radiculomegaly, and cardiac and digital abnormalities. In this study, the Bcor expression pattern has been intensively investigated during mouse molar development. Bcor is expressed in both dental epithelium and the mesenchyme at E11.5. To understand the function of Bcor, knockdown of Bcor has been examined by using lentivirus-mediated RNA interference. Silencing of Bcor expression in dental mesenchymal cells at E14.5 causes dentinogenesis defects and retardation of tooth root development. Thus, our results suggest that Bcor expressed in the mesenchyme plays crucial roles during early tooth development. The function of Bcor expressed in the epithelium remains to be elucidated.

show abstract

Case reports of oculofaciocardiodental syndrome with unusual dental findings

Cited by 43 publications

References 11 publications

A Case with Neurosensorial Hearing Loss and Anodonty Findings: Is This a Variant of Otodental Syndrome?

A Case with Neurosensorial Hearing Loss and Anodonty Findings: Is This a Variant of Otodental Syndrome?

Genome-wide Association Studies of Pit-and-Fissure- and Smooth-surface Caries in Permanent Dentition

Function analysis of mesenchymal Bcor in tooth development by using RNA interference

Contact Info

Product

Resources

About