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de novo mutation of cancer-related genes associates with particular neurodevelopmental disorders
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نویسنده
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li bin ,li kuokuo ,tian di ,zhou qiao ,xie yali ,fang zhenghuan ,wang xiaomeng ,luo tengfei ,wang zheng ,zhang yi ,wang yijing ,chen qian ,meng qingtuan ,zhao guihu ,li jinchen
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منبع
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journal of molecular medicine - 2020 - دوره : 98 - شماره : 12 - صفحه:1701 -1712
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چکیده
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Epidemiological studies have shown an increased prevalence of cancer in some patients with neurodevelopmental disorder (ndd); however, the genetic mechanisms regarding how cancer-related genes (crgs) contribute to ndd remain unclear. we performed bioinformatic analyses on 219 crgs from omim and de novo mutations (dnms) from 16,498 patients with different ndds and 3391 controls. our results showed that autism spectrum disorder, undiagnosed neurodevelopmental disorder, congenital heart disease and intellectual disability, but not epileptic encephalopathy and schizophrenia, harboured significantly more putative functional dnms in crgs, compared with controls, providing genetic evidence supporting previous epidemiological surveys. we further detected 26 crgs with recurrent putative functional dnms that showed high expression in the human brain during the prenatal stage and in non-brain organs in adults. the proteins coded by the 26 crgs and known ndd candidate genes formed a functional network that is involved in brain development and tumorigenesis. overall, we proposed 39 cancer-targeting drugs that could be investigated for treating patients with ndd, which would be potentially cost-effective. in conclusion, dnms contribute to specific ndds and there be a shared genetic basis between ndds and cancer, highlighting the importance of considering cancer-targeting drugs with potential curative effects in patients with ndds. • the contribution of dnms in ndd is consistent with epidemiological surveys. • we highlighted 26 crgs, including nine genes with more than five functional dnms. • specific expression patterns underlie the genetic mechanism of crgs in ndd. • specific functional networks underlie the genetic mechanism of crgs in ndd. • the shared genetic aetiology suggests potential mutual treatment strategies.
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کلیدواژه
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cancer-related gene ,developmental disorder ,de novo mutation ,expression pattern ,functional network
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آدرس
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central south university, national clinical research center for geriatric disorders, xiangya hospital, department of geriatrics, department of neurology, china, central south university, center for medical genetics & hunan key laboratory of medical genetics, school of life sciences, china, central south university, center for medical genetics & hunan key laboratory of medical genetics, school of life sciences, china, central south university, national clinical research center for geriatric disorders, xiangya hospital, department of geriatrics, department of neurology, china, central south university, national clinical research center for geriatric disorders, xiangya hospital, department of geriatrics, department of neurology, china, central south university, center for medical genetics & hunan key laboratory of medical genetics, school of life sciences, china, central south university, center for medical genetics & hunan key laboratory of medical genetics, school of life sciences, china, central south university, center for medical genetics & hunan key laboratory of medical genetics, school of life sciences, china, central south university, national clinical research center for geriatric disorders, xiangya hospital, department of geriatrics, china, central south university, national clinical research center for geriatric disorders, xiangya hospital, department of geriatrics, china, central south university, center for medical genetics & hunan key laboratory of medical genetics, school of life sciences, china, central south university, national clinical research center for geriatric disorders, xiangya hospital, department of geriatrics, china, affiliated hospital of guilin medical university, guangxi clinical research center for neurological diseases, china, central south university, national clinical research center for geriatric disorders, xiangya hospital, department of geriatrics, department of neurology, china, central south university, national clinical research center for geriatric disorders, xiangya hospital, center for medical genetics & hunan key laboratory of medical genetics, school of life sciences, department of geriatrics, department of neurology, china
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Authors
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