Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome

CHARGE syndrome is an autosomal-dominant disorder involved in multiple organs. Loss-of-function mutations in CHD7, a member of the chromodomain helicase DNA-binding (CHD) protein family, are known to cause the CHARGE syndrome. The purposes of this paper were to affirm the diagnosis and to identify the molecular basis of one atypical CHARGE syndrome patient from China, where only one CHARGE case was reported before. We employed the Verloes criteria to make a preliminary clinical diagnosis, and performed mutation screening of CHD7 via Ion Torrent semiconductor sequencing. The patient was preliminary diagnosed as atypical CHARGE syndrome according to Verloes criteria with a novel heterozygous small deletion of CHD7 (CHD7: c.3462_3471delTCGCTTCCCT). As the second reported case of CHARGE syndrome in China, it was caused by one novel heterozygous mutation of the CHD7 gene. Our findings further reveal the relationship between CHD7 and CHARGE syndrome and provide a potential clinical diagnosis for CHARGE syndrome.