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

doi:10.1038/jhg.2015.13

Case Reports

. 2015 May;60(5):277-9.

doi: 10.1038/jhg.2015.13. Epub 2015 Feb 19.

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

Ryoko Fukai¹, Yoko Hiraki², Hiroko Yofune³, Yoshinori Tsurusaki⁴, Mitsuko Nakashima⁴, Hirotomo Saitsu⁴, Fumiaki Tanaka⁵, Noriko Miyake⁴, Naomichi Matsumoto⁴

Affiliations

¹ 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.
² Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
³ Hiroshima City Hokubu Center for Children's Treatment and Guidance, Hiroshima, Japan.
⁴ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁵ Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

PMID: 25694107
DOI: 10.1038/jhg.2015.13

Case Reports

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

Ryoko Fukai et al. J Hum Genet. 2015 May.

. 2015 May;60(5):277-9.

doi: 10.1038/jhg.2015.13. Epub 2015 Feb 19.

Authors

Ryoko Fukai¹, Yoko Hiraki², Hiroko Yofune³, Yoshinori Tsurusaki⁴, Mitsuko Nakashima⁴, Hirotomo Saitsu⁴, Fumiaki Tanaka⁵, Noriko Miyake⁴, Naomichi Matsumoto⁴

Affiliations

¹ 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.
² Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
³ Hiroshima City Hokubu Center for Children's Treatment and Guidance, Hiroshima, Japan.
⁴ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁵ Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

PMID: 25694107
DOI: 10.1038/jhg.2015.13

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.

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
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References

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[1] Brain Res. 2011 Mar 22;1380:42-77 - PubMed

[2] Brain Res. 2011 Mar 22;1380:42-77 - PubMed

[3] Autism Res. 2012 Jun;5(3):160-79 - PubMed

[4] Autism Res. 2012 Jun;5(3):160-79 - PubMed

[5] Nat Rev Genet. 2014 Feb;15(2):133-41 - PubMed

[6] Nat Rev Genet. 2014 Feb;15(2):133-41 - PubMed

[7] Nature. 2014 Jul 17;511(7509):344-7 - PubMed

[8] Nature. 2014 Jul 17;511(7509):344-7 - PubMed

[9] Cell Mol Life Sci. 2001 Apr;58(4):625-35 - PubMed

[10] Cell Mol Life Sci. 2001 Apr;58(4):625-35 - PubMed

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

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

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