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FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

Ovaert, Caroline; Busa, Tiffany; Faure, Emilie; Missirian, Chantal; Philip, Nicole; Paoli, Florent; Milh, Mathieu; Macé, Loic; Zaffran, Stephane.
Am J Med Genet A; 173(9): 2489-2493, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28657660
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.
Selo DaSilva