Ovaert Caroline, Busa Tiffany, Faure Emilie, Missirian Chantal, Philip Nicole, Paoli Florent, Milh Mathieu, Macé Loic, Zaffran Stephane
Department of Pediatric and Congenital Cardiology, Timone Enfant, AP-HM, Marseille, France.
Faculté de Médecine, Inserm, GMGF, UMR_S910, Aix Marseille Université, Marseille, France.
Am J Med Genet A. 2017 Sep;173(9):2489-2493. doi: 10.1002/ajmg.a.38331. Epub 2017 Jun 28.
6p25 deletion is a rare but well-known entity. The main clinical features include an abnormal facial appearance, developmental delay, and ocular anomalies. Cardiac anomalies are frequently seen but remain poorly delineated. We describe a 4-year-old girl with 6p25.3 deletion, which includes the FOXC1 gene, typical dysmorphic features associated with developmental delay and oculo-motor anomalies. Aortic valve dysplasia was diagnosed early in life. The cardiac lesion progressed very rapidly between the age of 3 and 4 years requiring aortic valve replacement. Genomic analysis of blood and excised valve tissue showed down-regulation of FOXC1 but also FOXC2 expression in the diseased aortic valve. This allows us to speculate on the potential role of FOXC1 in aortic valve anomalies.
6p25缺失是一种罕见但广为人知的病症。主要临床特征包括面部外观异常、发育迟缓及眼部异常。心脏异常较为常见，但仍未完全明确。我们描述了一名患有6p25.3缺失的4岁女孩，该缺失包括FOXC1基因，伴有发育迟缓及动眼异常的典型畸形特征。早年诊断出主动脉瓣发育异常。心脏病变在3至4岁间进展非常迅速，需要进行主动脉瓣置换。对血液和切除的瓣膜组织进行基因组分析显示，患病主动脉瓣中FOXC1表达下调，同时FOXC2表达也下调。这使我们能够推测FOXC1在主动脉瓣异常中的潜在作用。
