{"title":"Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences.","authors":"David Curtis","doi":"10.1097/YPG.0000000000000284","DOIUrl":null,"url":null,"abstract":"<p><p>A recent report describes neurodevelopmental disorder in a total of three unrelated patients with de novo truncating variants in the HIRA gene. 200 632 subjects who have undergone exome sequencing by the UK Biobank were investigated to identify any variants predicted to cause HIRA haploinsufficiency. Four were found, three with frameshift variants and one with a stop variant. One of these subjects had depression but the others did not have any major neuropsychiatric phenotypes. Variants causing haploinsufficiency of HIRA are very rare but when they do occur it seems that they are not always associated with neurodevelopmental disorder.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 4","pages":"140-142"},"PeriodicalIF":1.5000,"publicationDate":"2021-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Psychiatric Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/YPG.0000000000000284","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 1
Abstract
A recent report describes neurodevelopmental disorder in a total of three unrelated patients with de novo truncating variants in the HIRA gene. 200 632 subjects who have undergone exome sequencing by the UK Biobank were investigated to identify any variants predicted to cause HIRA haploinsufficiency. Four were found, three with frameshift variants and one with a stop variant. One of these subjects had depression but the others did not have any major neuropsychiatric phenotypes. Variants causing haploinsufficiency of HIRA are very rare but when they do occur it seems that they are not always associated with neurodevelopmental disorder.
期刊介绍：
The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed.
Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness.
Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered.
Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.
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