Whole exome sequencing identified novel mutations of CHARGE syndrome. WES in five CHARGE syndrome patients

In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutations by whole exome sequencing. Although the clinical phenotypes of probands are highly variable, typical presentations including coloboma and choanal atresia are not present usually, but congenital heart defects are commonly. Otherwise, dyspnea is the most prominent symptom in neonatal patients. We suggest that phenotypes of CHARGE syndrome should be expanded with dyspnea. And neonate should be considered for molecular diagnosis when dyspnea and structural malformation are presented.