The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy

This is a preview of subscription content, log in to check access.

Fig. 1
Fig. 2

References

  1. 1.

    Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N (2015) A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. J Hum Genet 60(5):277

    CAS  Article  Google Scholar 

  2. 2.

    Matsumura K, Nakazawa T, Nagayasu K, Gotoda-Nishimura N, Kasai A, Hayata-Takano A, Shintani N, Yamamori H, Yasuda Y, Hashimoto R, Hashimoto H (2016) De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ. J Mol Psychiatry 4(1):1

    Article  Google Scholar 

  3. 3.

    Dentici ML, Niceta M, Pantaleoni F et al (2017) Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Am J Med Genet Part A 173(7):1965–1969

    CAS  Article  Google Scholar 

  4. 4.

    Stessman HA, Willemsen MH, Fenckova M et al (2016) Disruption of POGZ is associated with intellectual disability and autism spectrum disorders. Am J Human Genet 98(3):541–552

    CAS  Article  Google Scholar 

  5. 5.

    White J, Beck CR, Harel T et al (2016) POGZ truncating alleles cause syndromic intellectual disability. Genome Med 8(1):3

    Article  Google Scholar 

  6. 6.

    Ye Y, Cho MT, Retterer K et al (2015) De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. Mol Case Stud 1(1):a000455

    Article  Google Scholar 

  7. 7.

    D’Mello AM, Stoodley CJ (2015) Cerebro-cerebellar circuits in autism spectrum disorder. Front Neurosci 9:408

    PubMed  PubMed Central  Google Scholar 

Download references

Funding

The authors received no financial support for the research, authorship, and/or publication of this article.

Author information

Affiliations

Authors

Contributions

DS: drafted the manuscript, RR: interpretation of neuroimaging and revision of the manuscript, BS: revision of manuscript

Corresponding author

Correspondence to Debopam Samanta.

Ethics declarations

Conflict of interest

The authors declared no potential conflicts of interest with respect to the research, authorship,and/or publication of this article.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from the parents of the child included in the study.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (TIF 1687 KB)

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Samanta, D., Ramakrishnaiah, R. & Schaefer, B. The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy. Acta Neurol Belg 120, 447–450 (2020). https://doi.org/10.1007/s13760-019-01122-6

Download citation