De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
Yizhou Ye1, Megan T Cho1, Kyle Retterer1
1GeneDx, Gaithersburg, Maryland 20877, USA;
Abstract:
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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