A novel de novo POGZ mutation in a patient with intellectual disability

Journal of Human Genetics
Bo TanLingqian Wu

Abstract

POGZ, the gene encoding pogo transposable element-derived protein with zinc-finger domain, has been implicated in autism spectrum disorder and it is widely expressed in the human tissues, including the brain. Intellectual disability (ID) is highly heterogeneous neurodevelopment disorder and affects ~2-3% of the general population. Here we report the identification of a novel frameshift mutation in the coding region of the POGZ gene (c.1277_1278insC), which occurred de novo in a Chinese patient with ID. In silico analysis and western blotting revealed this frameshift mutation generating truncated protein in peripheral blood lymphocytes, and this may disrupt several important domains of POGZ gene. Our finding broadens the spectrum of POGZ mutations and may help to understand the molecular basis of ID and aid genetic counseling.

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Citations

Apr 23, 2016·Journal of Molecular Psychiatry·Kensuke MatsumuraHitoshi Hashimoto
May 29, 2019·American Journal of Medical Genetics. Part a·Alessandro FerrettiNicola Specchio
Nov 30, 2019·American Journal of Medical Genetics. Part a·Nurit Assia BatzirV Reid Sutton
Feb 28, 2020·Nature Communications·Kensuke MatsumuraTakanobu Nakazawa
Nov 11, 2021·EMBO Reports·John HeathAlexandre Orthwein

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