title: Genome-first approach diagnosed Cabezas syndrome via novelCUL4Bmutation detection.
abstract: Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in theCUL4Bgene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon ofCUL4B, thus diagnosing this patient with Cabezas syndrome.
authors.affiliation: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Watanabe
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.affiliation: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Matsuda
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kohmoto
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Saito
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Masuda
authors.affiliation: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto