A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome

Abstract

CHARGE syndrome is a rare autosomal dominant developmental disorder involving multiple organs. CHD7 is a major causative gene of CHARGE syndrome. We performed targeted-exome sequencing using a next-generation sequencer for molecular diagnosis of a 4-month-old male patient who was clinically suspected to have CHARGE syndrome, and report a novel monoallelic mutation in CHD7, NM-017780.3(CHD7-v001):c.2966del causing a reading frameshift [p.(Cys989Serfs∗3)].