title: 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)].
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan; Student Laboratory, Faculty of Medicine, Tokushima University, Tokushima, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kohmoto
authors.affiliation: Department of Pediatrics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Shono
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan; Student Laboratory, Faculty of Medicine, Tokushima University, Tokushima, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Watanabe
authors.affiliation: Department of Pediatrics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Ken-Ichi
authors.initials: K
authors.lastname: Suga
authors.affiliation: Department of Pediatrics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Ryuji
authors.initials: R
authors.lastname: Nakagawa
authors.affiliation: Department of Pediatrics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Shoji
authors.initials: S
authors.lastname: Kagami
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Masuda
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto