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

Tomohiro Kohmoto; Miki Shono; Takuya Naruto; Miki Watanabe; Ken-Ichi Suga; Ryuji Nakagawa; Shoji Kagami; Kiyoshi Masuda; Issei Imoto

doi:10.1038/hgv.2016.4

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

Hum Genome Var. 2016 Apr 7:3:16004. doi: 10.1038/hgv.2016.4. eCollection 2016.

Authors

Tomohiro Kohmoto¹, Miki Shono², Takuya Naruto³, Miki Watanabe¹, Ken-Ichi Suga², Ryuji Nakagawa², Shoji Kagami², Kiyoshi Masuda³, Issei Imoto³

Affiliations

¹ Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan; Student Laboratory, Faculty of Medicine, Tokushima University, Tokushima, Japan.
² Department of Pediatrics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
³ Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.

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)].