The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy
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...
DS: drafted the manuscript, RR: interpretation of neuroimaging and revision of the manuscript, BS: revision of manuscript
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The authors declared no potential conflicts of interest with respect to the research, authorship,and/or publication of this article.
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 was obtained from the parents of the child included in the study.
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