A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

Autor: Fukai R; 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., Hiraki Y; Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan., Yofune H; Hiroshima City Hokubu Center for Children's Treatment and Guidance, Hiroshima, Japan., Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Jazyk: angličtina
Zdroj: Journal of human genetics [J Hum Genet] 2015 May; Vol. 60 (5), pp. 277-9. Date of Electronic Publication: 2015 Feb 19.
DOI: 10.1038/jhg.2015.13
Abstrakt: 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.
Databáze: MEDLINE
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