Di Stefano C, Lombardo B, Fabbricatore C, Munno C, Caliendo I, Gallo F, Pastore L
U.O. Terapia Intensiva Neonatale, P.O."Umberto I", Nocera Inferiore, Italy.
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy; CEINGE-Biotecnologie Avanzate, Naples, Italy.
Gene. 2015 Apr 1;559(2):203-6. doi: 10.1016/j.gene.2015.01.044. Epub 2015 Jan 22.
Oculo-facio-cardio-dental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental and cardiac systems. The syndrome is an X-linked dominant trait and it might be lethal in males. This syndrome is usually caused by mutations in the BCL6 interacting co-repressor gene (BCOR). We described a female child with mild phenotype of oculo-facio-cardio-dental syndrome. Array-comparative genomic hybridization (a-CGH) analysis revealed a de novo heterozygous deletion in the Xp11.4 region of approximately 2.3 Mb, involving BCOR and ornithine carbamoyl-transferase (OTC) genes. The deletion observed was subsequently confirmed by real time PCR. In this study we report a first case with co-occurrence of BCOR and OTC genes completely deleted in OFCD syndrome.
眼-面-心-牙（OFCD）综合征是一种罕见的遗传性疾病，会影响眼部、面部、牙齿和心脏系统。该综合征为X连锁显性性状，对男性可能是致命的。这种综合征通常由BCL6相互作用共抑制因子基因（BCOR）突变引起。我们描述了一名患有轻度眼-面-心-牙综合征表型的女童。阵列比较基因组杂交（a-CGH）分析显示，Xp11.4区域存在约2.3 Mb的新生杂合缺失，涉及BCOR和鸟氨酸氨甲酰基转移酶（OTC）基因。随后通过实时PCR证实了所观察到的缺失。在本研究中，我们报告了首例在OFCD综合征中BCOR和OTC基因同时完全缺失的病例。
