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

  • Debopam SamantaEmail author
  • Raghu Ramakrishnaiah
  • Bradley Schaefer
Letter to the Editor

Introduction

POGZ (pogo transposable element-derived protein with zinc finger domain) gene encodes a multi-domain protein that regulates chromatin remodeling, chromosome segregation, and mitotic progression. Pathogenic POGZ mutation makes the majority of cells to exit mitosis prematurely with the formation of polyploid cells, which subsequently causes cell death or genomic instability in the subsequent division cycles. A pathogenic mutation is likely to deplete neurogenic progenitor cells with subsequent development of a decreased number of neurons and neurodevelopmental phenotype. Clinical features of pathogenic POGZ variants are autism, intellectual impairment, microcephaly, short stature, hypotonia, facial dysmorphisms, strabismus, hearing loss, and growth retardation. Diagnosis of POGZvariants is underestimated, especially in the presence of isolated autism and/or intellectual impairment. Though neurobehavioral phenotype is common and core features have been described in some...

Notes

Author contributions

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

Funding

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

Compliance with ethical standards

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.

Supplementary material

13760_2019_1122_MOESM1_ESM.tif (1.6 mb)
Supplementary material 1 (TIF 1687 KB)

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):277CrossRefGoogle 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):1CrossRefGoogle 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):1965–1969CrossRefGoogle 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):541–552CrossRefGoogle Scholar
  5. 5.
    White J, Beck CR, Harel T et al (2016) POGZ truncating alleles cause syndromic intellectual disability. Genome Med 8(1):3CrossRefGoogle 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):a000455CrossRefGoogle Scholar
  7. 7.
    D’Mello AM, Stoodley CJ (2015) Cerebro-cerebellar circuits in autism spectrum disorder. Front Neurosci 9:408Google Scholar

Copyright information

© Belgian Neurological Society 2019

Authors and Affiliations

  1. 1.Child Neurology Division, Department of PediatricsUniversity of Arkansas for Medical SciencesLittle RockUSA
  2. 2.Division of Neuroradiology and Pediatric RadiologyUniversity of Arkansas for Medical SciencesLittle RockUSA
  3. 3.Division of Genetics, Department of PediatricsUniversity of Arkansas for Medical SciencesLittle RockUSA

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