Oculo-facio-cardio-dental syndrome in a mother and daughter

McGovern, Eiméar; Al-Mudaffer, Mudaffer; McMahon, Colin J.; Brosnahan, Donal; Fleming, Pádraic; Reardon, William

doi:10.1016/j.ijom.2006.05.001

Cited by 23 publications

(20 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A tooth with radiculomegaly could be considered similar to a tooth with incomplete root development. The treatment of teeth with immature root development and open apices is widely discussed in the literature; currently, mineral trioxide aggregate is one of the better materials to use in these conditions (14). The sealing ability (15,16) and the biocompatibility (17,18) of the cement create an apical plug against condensing filling materials, providing a quick and a generally good outcome (19)(20)(21).…”

Section: Discussionmentioning

confidence: 99%

Endodontic Management in Oculo-Facio-Cardio-Dental Syndrome: A Case Report

Pace

Giuliani

Pagavino

2011

Journal of Endodontics

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Endodontic Management in Oculo-Facio-Cardio-Dental Syndrome: A Case Report

Pace

Giuliani

Pagavino

2011

Journal of Endodontics

View full text Add to dashboard Cite

“…Both familial and sporadic cases with OFCD syndrome have been described in the literature, where in familial cases both mother and daughter(s) were affected [Hedera and Gorski, 2003;McGovern et al, 2006;Kondo et al, 2012;Lozic et al, 2012]. The 2 sisters with OFCD from India described here have a novel alteration in BCOR , the heterozygous nonsense mutation c.3490C>T (p.R1164 * ).…”

Section: Discussionmentioning

confidence: 88%

Evidence of Germline Mosaicism for a Novel <b><i>BCOR</i></b> Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

Danda¹,

Rahden

John

et al. 2014

Mol Syndromol

View full text Add to dashboard Cite

In this study, we report on 2 sisters from India with oculo-facio-cardio-dental (OFCD) syndrome caused by a novel heterozygous mutation c.3490C>T (p.R1164*) in the BCOR gene. OFCD syndrome is an X-linked inherited disorder which is lethal in males. Interestingly, both parents of the sisters were phenotypically normal, and DNA analysis from blood and buccal or saliva cells failed to detect the BCOR mutation found in their 2 daughters. To the best of our knowledge, for the first time, we provide indirect evidence of germline mosaicism for the BCOR mutation in one of the parents of the 2 sisters affected by OFCD syndrome. Although this condition is lethal in males, gonadal mosaicism could also be present in the father. The relevance of clinical diagnosis and mutation analysis required for genetic counseling is described in this family.

show abstract

“…The structural cardiac anomalies are frequently septal defects (atrial e/o ventricular) and mitral valve prolapsed. OFCD cases are sporadic, since all reported OFCD individuals have been female (McGovern et al, 2006), it has been suggested that this syndrome is an X-linked dominant trait and it might be lethal in males. The syndrome is usually caused by mutations in the BCL6 interacting corepressor (Ng et al, 2004).…”

Section: Introductionmentioning

confidence: 99%