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新生POGZ突变与神经发育障碍和小头畸形有关。

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.

作者信息

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

机构信息

GeneDx, Gaithersburg, Maryland 20877, USA;

Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar;

出版信息

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000455. doi: 10.1101/mcs.a000455.

DOI:10.1101/mcs.a000455
PMID:27148570
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4850885/
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.

摘要

通过全外显子组测序发现，7名患有发育迟缓与小头畸形相似表型的患者在POGZ基因中存在新生功能丧失突变。POGZ是一种具有锌指结构簇的源自pogo转座元件的蛋白质。该蛋白质参与正常的动粒组装、有丝分裂姐妹染色单体黏连以及有丝分裂染色体分离。POGZ缺乏可能影响有丝分裂，扰乱大脑发育和功能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f574/4850885/69b838df14ed/YeMCS000455_F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f574/4850885/e5358a469cc0/YeMCS000455_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f574/4850885/69b838df14ed/YeMCS000455_F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f574/4850885/e5358a469cc0/YeMCS000455_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f574/4850885/69b838df14ed/YeMCS000455_F2.jpg

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Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.基于大型临床队列中的拷贝数变异谱，评估外显子组测序和外显子组阵列比较基因组杂交的拷贝数。
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