A case of autism spectrum disorder arising from a de novo missense mutation in POGZ View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-05

AUTHORS

Ryoko Fukai, Yoko Hiraki, Hiroko Yofune, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

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. More... »

PAGES

277

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2015.13

DOI

http://dx.doi.org/10.1038/jhg.2015.13

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1031517659

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25694107


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