HIRA基因的单倍性可能并不总是产生严重的神经发育后果。

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Psychiatric Genetics Pub Date : 2021-08-01 DOI:10.1097/YPG.0000000000000284

David Curtis

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引用次数: 1

摘要

最近的一份报告描述了三名不相关的HIRA基因从头截断变异患者的神经发育障碍。英国生物银行对200 632名接受外显子组测序的受试者进行了调查，以确定任何预测会导致HIRA单倍性不足的变体。发现了四个，三个带有移码变体，一个带有停止变体。其中一名受试者患有抑郁症，但其他受试者没有任何主要的神经精神表型。导致HIRA单倍充足的变体非常罕见，但当它们确实发生时，似乎并不总是与神经发育障碍有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences.

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.

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来源期刊

Psychiatric Genetics 医学-神经科学

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

3 months

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.