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Case reports of oculofaciocardiodental syndrome with unusual dental findings
Author(s) -
Oberoi Snehlata,
Winder Alison E.,
Johnston Jennifer,
Vargervik Karin,
Slavotinek Anne M.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30811
Subject(s) - frameshift mutation , microphthalmia , genetics , medicine , mutation , stop codon , gene , biology
We report on two new cases of oculofaciocardiodental (OFCD) syndrome characterized by cataracts, microphthalmia, facial anomalies, cleft palate, cardiac septal defects, and canine radiculomegaly. We also review previous patients. The syndrome is caused by mutations in the BCOR gene, which maps to Xp11.4. Mutational analysis in one of our patients showed a deletion of a single nucleotide, c.2613delC, predicting a novel frameshift mutation with a premature stop codon, p.F871Lfs8X. © 2005 Wiley‐Liss, Inc.