染色质相关基因的致病变异:将免疫失调与神经退化和急性神经精神疾病联系起来。

IF 3.8 2区 医学 Q1 CLINICAL NEUROLOGY
Russell C Dale, Shekeeb Mohammad, Velda X Han, Hiroya Nishida, Himanshu Goel, Stuart G Tangye, Georgina Hollway, Esther Tantsis, Deepak Gill, Shrujna Patel
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引用次数: 0

摘要

我们报道了8名患有染色质相关基因(MORC2、CHD7、KANSL1、KMT2D、ZMYND11、HIST1HIE、EP300和KMT2B)新发致病性DNA变异的儿童。所有儿童均出现感染或疫苗引起的神经退化或突发性神经精神综合征。大多数患者在第一次衰退前发育迟缓(n = 6), 4例患者有免疫缺陷或自身免疫(n = 4)。在平均4岁2个月(范围1-8岁)时,症状包括感染引起的自闭症/语言退化(n = 6),认知能力下降(n = 3),步态恶化(n = 3),或突发性焦虑,强迫症和/或抽搐(n = 5)。3名儿童有持续感染引起的恶化。6名儿童受益于静脉注射免疫球蛋白(n = 3)或抗生素(n = 4)。八种染色质基因的核糖核酸表达在神经元、胶质细胞和外周白细胞中是相似的,而非染色质神经发育基因主要在神经元中表达。这些病例表明染色质失调在自闭症消退和突发性神经精神综合征中的作用,可能与脑和免疫基因失调有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders.

We report eight children with de novo pathogenic DNA variants in chromatin-related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B. All children experienced infection or vaccine-provoked neuroregression or abrupt-onset neuropsychiatric syndromes. Most had delayed development (n = 6) before the first regression, and four had immune deficiency or autoimmunity (n = 4). At a mean age of 4 years 2 months (range 1-8 years), symptoms included infection-provoked autistic/language regression (n = 6), cognitive decline (n = 3), gait deterioration (n = 3), or abrupt-onset anxiety, obsessive-compulsive disorder, and/or tics (n = 5). Three children had ongoing infection-provoked deteriorations. Six children benefited from intravenous immunoglobulin (n = 3) or antibiotics (n = 4). Ribonucleic acid expression of the eight chromatin genes was similar in neuronal, glial, and peripheral leukocytes, unlike non-chromatin neurodevelopmental genes, which have predominantly neuronal expression. These cases demonstrate the role of chromatin dysregulation in autistic regression and abrupt-onset neuropsychiatric syndromes, potentially related to brain and immune gene dysregulation.

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来源期刊
CiteScore
7.80
自引率
13.20%
发文量
338
审稿时长
3-6 weeks
期刊介绍: Wiley-Blackwell is pleased to publish Developmental Medicine & Child Neurology (DMCN), a Mac Keith Press publication and official journal of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) and the British Paediatric Neurology Association (BPNA). For over 50 years, DMCN has defined the field of paediatric neurology and neurodisability and is one of the world’s leading journals in the whole field of paediatrics. DMCN disseminates a range of information worldwide to improve the lives of disabled children and their families. The high quality of published articles is maintained by expert review, including independent statistical assessment, before acceptance.
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