FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.
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.
['Ovaert|Caroline|C|http://orcid.org/0000-0002-2277-2760', 'Busa|Tiffany|T|http://orcid.org/0000-0003-4454-1979', 'Faure|Emilie|E|', 'Missirian|Chantal|C|', 'Philip|Nicole|N|', 'Paoli|Florent|F|', 'Milh|Mathieu|M|', 'Macé|Loic|L|', 'Zaffran|Stephane|S|']
D000015:Abnormalities, Multiple D001021:Aortic Valve D000082882:Bicuspid Aortic Valve Disease D002675:Child, Preschool D002872:Chromosome Deletion D002896:Chromosomes, Human, Pair 6 D005124:Eye Abnormalities D005260:Female D051858:Forkhead Transcription Factors D005786:Gene Expression Regulation D057895:Haploinsufficiency D006330:Heart Defects, Congenital D006349:Heart Valve Diseases D006801:Humans D010641:Phenotype
FOXC1 6p25 deletion aortic valve disease genetics