De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
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ABSTRACT:
SUBMITTER: Ye Y
PROVIDER: S-EPMC4850885 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Publications
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Ye Yizhou Y Cho Megan T MT Retterer Kyle K Alexander Nora N Ben-Omran Tawfeg T Al-Mureikhi Mariam M Cristian Ingrid I Wheeler Patricia G PG Crain Carrie C Zand Dina D Weinstein Veronique V Vernon Hilary J HJ McClellan Rebecca R Krishnamurthy Vidya V Vitazka Patrik P Millan Francisca F Chung Wendy K WK
Cold Spring Harbor molecular case studies 20151001 1
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. ...[more]
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