De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

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 assemb...

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Detalles Bibliográficos
Autores principales: Ye, Yizhou, Cho, Megan T., Retterer, Kyle, Alexander, Nora, Ben-Omran, Tawfeg, Al-Mureikhi, Mariam, Cristian, Ingrid, Wheeler, Patricia G., Crain, Carrie, Zand, Dina, Weinstein, Veronique, Vernon, Hilary J., McClellan, Rebecca, Krishnamurthy, Vidya, Vitazka, Patrik, Millan, Francisca, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2015
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850885/
https://www.ncbi.nlm.nih.gov/pubmed/27148570
http://dx.doi.org/10.1101/mcs.a000455
Descripción
Sumario: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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