Seven patients with similar phenotypes of developmental delay and microcephaly were found by whole-exome sequencing to have de novo loss-of-function mutations in POGZ. POGZ is a pogo transposable element-derived protein with a zinc finger cluster. The protein is involved in normal kinetochore assembly and mitotic sister chromatid cohesion and mitotic chromosome segregation. POGZ deficiency may affect mitosis, disrupting brain development and function.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850885 | PMC |
| http://dx.doi.org/10.1101/mcs.a000455 | DOI Listing |
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