title: Case reports of oculofaciocardiodental syndrome with unusual dental findings.
abstract: 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.
authors.affiliation: University of California, San Francisco, Center for Craniofacial Anomalies, San Francisco, California 94122, USA. sobe5295@itsa.ucsf.edu
authors.forename: Snehlata
authors.initials: S
authors.lastname: Oberoi
authors.forename: Alison E
authors.initials: AE
authors.lastname: Winder
authors.forename: Jennifer
authors.initials: J
authors.lastname: Johnston
authors.forename: Karin
authors.initials: K
authors.lastname: Vargervik
authors.forename: Anne M
authors.initials: AM
authors.lastname: Slavotinek
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D016368:Frameshift Mutation; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D017384:Sequence Deletion; D013577:Syndrome; D014071:Tooth Abnormalities
chemical_list: C411984:BCOR protein, human; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; D004247:DNA