title: A novel de novo POGZ mutation in a patient with intellectual disability.
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.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Tan
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Yongyi
authors.initials: Y
authors.lastname: Zou
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Zhang
authors.affiliation: Institute of Mental Health, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Jianjun
authors.initials: J
authors.lastname: Ou
authors.affiliation: Institute of Mental Health, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Yidong
authors.initials: Y
authors.lastname: Shen
authors.affiliation: Institute of Mental Health, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Jingping
authors.initials: J
authors.lastname: Zhao
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Luo
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Guo
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Lanlan
authors.initials: L
authors.lastname: Zeng
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Yiqiao
authors.initials: Y
authors.lastname: Hu
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zheng
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.|Hunan Jiahui Genetics Hospital, Changsha, Hunan, China.
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.|Hunan Jiahui Genetics Hospital, Changsha, Hunan, China.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000473:pathology; D002648:Child; D059472:Exome / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D019895:Transposases / Q000235:genetics*; D004268:DNA-Binding Proteins; D018797:Cell Cycle Proteins
chemical_list: D019895:Transposases; C541037:POGZ protein, human; D004268:DNA-Binding Proteins; D018797:Cell Cycle Proteins