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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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
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author 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.
author_facet 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.
author_sort Ye, Yizhou
collection PubMed
description 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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spelling pubmed-48508852016-05-04 De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly 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. Cold Spring Harb Mol Case Stud Research Report 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. Cold Spring Harbor Laboratory Press 2015-10 /pmc/articles/PMC4850885/ /pubmed/27148570 http://dx.doi.org/10.1101/mcs.a000455 Text en © 2015 Ye et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Research Report
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.
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
title De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
title_full De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
title_fullStr De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
title_full_unstemmed De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
title_short De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
title_sort de novo pogz mutations are associated with neurodevelopmental disorders and microcephaly
topic Research Report
url 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
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