Lozić B, Ljubković J, Pandurić D Gabrić, Saltvig I, Kutsche K, Krželj V, Zemunik T
Department of Pediatrics, University Hospital Split, Split, Croatia.
Braz J Med Biol Res. 2012 Dec;45(12):1315-9. doi: 10.1590/s0100-879x2012007500150. Epub 2012 Sep 18.
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.
眼-面-心-牙（OFCD）综合征是一种罕见的X连锁疾病，主要在女性中表现。患者表现出眼部、面部、心脏和牙齿异常。OFCD综合征由位于Xp11.4的BCOR基因突变引起，该基因编码BCL6共抑制因子。我们报告了一个克罗地亚家族，有四名女性成员（祖母、母亲和单卵双生女性双胞胎）被诊断患有OFCD综合征，她们携带新的BCOR突变c.4438C>T（p.R1480*）。她们在家族内部表现出高度的表型变异性，尤其是心脏缺陷和白内障，在连续几代中疾病表达更为严重。对双胞胎母亲的临床和影像学检查发现，其右上颌恒中切牙有一个畸形中央尖。这是首次报道OFCD综合征伴有BCOR基因新突变且出现畸形中央尖的病例。
