title: A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
abstract: Autism spectrum disorder (ASD) is a clinically heterogeneous psychiatric disorder with various genetic backgrounds. Here, we report a novel mutation in the pogo transposable element-derived protein with zinc finger domain gene (POGZ) identified by trio-based whole exome sequencing. To date, a total of seven de novo POGZ mutations in ASD have been reported. POGZ contains a total of five functional domains, and this study reports the first de novo missense mutation in the centromere protein B-like DNA-binding domain. POGZ is highly expressed in the human fetal brain and is involved in mitosis and the regulation of neuronal proliferation. Therefore its loss-of-function or pathogenic missense mutations are likely to be causative of ASD.
authors.affiliation: 1] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan [2] Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Ryoko
authors.initials: R
authors.lastname: Fukai
authors.affiliation: Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hiraki
authors.affiliation: Hiroshima City Hokubu Center for Children's Treatment and Guidance, Hiroshima, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Yofune
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Nakashima
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Tanaka
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000067877:Autism Spectrum Disorder / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D059472:Exome; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D019895:Transposases / Q000235:genetics*; D004268:DNA-Binding Proteins; D018797:Cell Cycle Proteins
chemical_list: D019895:Transposases; C541037:POGZ protein, human; D004268:DNA-Binding Proteins; D018797:Cell Cycle Proteins