Molecular characterization of a novel ring 6 chromosome using next generation sequencing

Table 1 Genotype to phenotype associations

Main clinical findings in the patient	Gene	References
Severe mental retardation, speech delay	FOXC1	[27–29]
	FOXF2	[30]
	GMDS	[31]
Congenital heart disease, ostium secundum defect, patent ductus arteriosus, pulmonary stenosis, left superior vena cava residues and coronary sinus distention	FOXC1	[24–27]
	FOXF2	[24, 25]
Teeth agenesis	FOXF2	[30]
Leukoma	IRF4	[37, 38]
Iridogoniodysgenesis anomaly and nystagmus	FOXC1	[27]
Iridogoniodysgenesis anomaly and nystagmus	FOXF2	[35]

ISSN: 1755-8166