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（基因）功能的杂合性缺失与智力缺陷、罗兰多癫痫和语言障碍有关。 （注：这里原文“of”后面缺少具体基因名称，翻译时补充了“基因”一词使句子更通顺完整）

Heterozygous loss of function of is associated with intellectual deficiency, rolandic epilepsy, and language impairment.

作者信息

Ramos Luiza L P, Monteiro Fabiola P, Sampaio Leticia P B, Costa Larissa A, Ribeiro Mara D O, Freitas Erika L, Kitajima Joao P, Kok Fernando

机构信息

Mendelics Genomic Analysis Sao Paulo Brazil.

Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil.

出版信息

Clin Case Rep. 2019 Jul 11;7(8):1582-1584. doi: 10.1002/ccr3.2260. eCollection 2019 Aug.

DOI:10.1002/ccr3.2260
PMID:31428396
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6693049/
Abstract

Recognition of a de novo mutation in associated with a neurodevelopmental phenotype reinforces its role in 2q23q24 microdeletion syndrome. Using the proband WES data and the probability of loss-of-function intolerance index (pLi) set at 1.0 (highest intolerance constraint), we could target as the candidate gene in this patient.

摘要

识别与神经发育表型相关的新发突变强化了其在2q23q24微缺失综合征中的作用。利用先证者的全外显子组测序（WES）数据以及设定为1.0（最高不耐受约束）的功能丧失不耐受指数（pLi）概率，我们可以将该基因确定为该患者的候选基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91d4/6693049/41bbe55fa4c0/CCR3-7-1582-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91d4/6693049/41bbe55fa4c0/CCR3-7-1582-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91d4/6693049/41bbe55fa4c0/CCR3-7-1582-g001.jpg

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2
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Neurol Genet. 2017 Dec 11;3(6):e198. doi: 10.1212/NXG.0000000000000198. eCollection 2017 Dec.
3
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.
作为发育性和癫痫性脑病的新靶标基因：相关疾病障碍和治疗策略的系统综述。
Int J Mol Sci. 2024 May 10;25(10):5198. doi: 10.3390/ijms25105198.
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Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.儿童期起病的癫痫和发育性癫痫性脑病后继发早发性帕金森病。
Int J Mol Sci. 2023 Feb 14;24(4):3796. doi: 10.3390/ijms24043796.
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