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鉴定一名患有婴儿期肌张力减退伴精神运动发育迟缓及特征性面容-2（IHPRF2）患儿的新型 UNC80 纯合变异。

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).

机构信息

Department of Applied Biology/ Biotechnology Program, University of Sharjah, College of Sciences, P.O. Box 27272, Sharjah, United Arab Emirates.

Centre for Arab Genomic Studies, Dubai, United Arab Emirates.

出版信息

Metab Brain Dis. 2018 Jun;33(3):869-873. doi: 10.1007/s11011-018-0200-z. Epub 2018 Feb 11.

DOI:10.1007/s11011-018-0200-z
PMID:29430593
Abstract

The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. In this study, we report on a novel homozygous mutation in UNC80 in a Palestinian-Emirati patient suffering infantile hypotonia with psychomotor retardation and characteristic facies. This mutation was detected by whole exome sequencing and confirmed using Sanger sequencing in the patient-parents trio. Numerous elements in the patient's phenotype were in agreement with the few reported cases of UNC80 mutations; however there are some notable differences. We present comprehensive clinical and molecular accounts of this mutation in addition to a full review of previously reported patients of UNC80 mutations.

摘要

UNC80 基因编码 NALCN 钠泄漏通道复合物的一个重要组成部分，该复合物调节神经系统的基础兴奋性。在这项研究中，我们报告了一名巴勒斯坦-阿联酋患者的 UNC80 中的一种新型纯合突变，该患者患有婴儿性张力减退伴精神运动发育迟缓及特征性面容。该突变是通过全外显子组测序检测到的，并在患者-父母三人组中使用 Sanger 测序进行了确认。患者表型中的许多特征与少数报道的 UNC80 突变病例一致；然而，也存在一些显著差异。我们除了全面回顾先前报道的 UNC80 突变患者外，还提供了该突变的综合临床和分子资料。

相似文献

1
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).鉴定一名患有婴儿期肌张力减退伴精神运动发育迟缓及特征性面容-2（IHPRF2）患儿的新型 UNC80 纯合变异。
Metab Brain Dis. 2018 Jun;33(3):869-873. doi: 10.1007/s11011-018-0200-z. Epub 2018 Feb 11.
2
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.两位具有不同表型的中国患者均存在 UNC80 双等位基因突变，导致婴儿期肌张力低下伴精神运动发育迟缓以及特征性面容 2。
Gene. 2018 Jun 20;660:13-17. doi: 10.1016/j.gene.2018.03.063. Epub 2018 Mar 20.
3
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.UNC80突变会导致肌张力减退、严重智力障碍、运动障碍和畸形综合征，这与与其相互作用的阳离子通道NALCN中的突变所导致的综合征相似。
J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6.
4
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.UNC80基因的双等位基因突变导致持续性肌张力减退、脑病、生长发育迟缓及严重智力障碍。
Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17.
5
Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.UNC80 中的新型无义突变进一步证实了社交技能和严重胃肠道问题是疾病谱的一部分。
Am J Med Genet A. 2023 Jul;191(7):1959-1962. doi: 10.1002/ajmg.a.63213. Epub 2023 Apr 17.
6
Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2.病例报告：一名患有婴儿期肌张力减退伴精神运动发育迟缓及特征性面容2的中国患者出现2号染色体完全母源性单亲二倍体及新型剪接变异c.5609-4G>A
Front Genet. 2021 Sep 14;12:747422. doi: 10.3389/fgene.2021.747422. eCollection 2021.
7
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).NALCN-UNC80-UNC79 离子通道复合物成分中的遗传变异导致广泛的临床表型（NALCN 通道病）。
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A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.两名非裔加勒比裔兄弟姐妹均存在肌张力低下和长头畸形，携带 NALCN 基因纯合截断变异。
Am J Med Genet A. 2020 Aug;182(8):1877-1880. doi: 10.1002/ajmg.a.61744. Epub 2020 Jul 2.
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Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.全外显子组测序揭示了泰国严重智力残疾患者中 FBXL4、UNC80 和 ADK 的突变。
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Clin Dysmorphol. 2021 Jan;30(1):1-5. doi: 10.1097/MCD.0000000000000360.

引用本文的文献

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Structure and mechanism of NALCN-FAM155A-UNC79-UNC80 channel complex.NALCN - FAM155A - UNC79 - UNC80通道复合物的结构与机制
Nat Commun. 2022 May 12;13(1):2639. doi: 10.1038/s41467-022-30403-7.
2
Architecture of the human NALCN channelosome.人类NALCN通道体的结构
Cell Discov. 2022 Apr 6;8(1):33. doi: 10.1038/s41421-022-00392-4.
3
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome.与严重神经运动发育迟缓综合征相关的基因中 CNV 的致病性趋同。

本文引用的文献

1
Phenotypic evolution of UNC80 loss of function.UNC80功能丧失的表型演变。
Am J Med Genet A. 2016 Dec;170(12):3106-3114. doi: 10.1002/ajmg.a.37929. Epub 2016 Aug 11.
2
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.编码UNC79-UNC80-NALCN通道复合物一部分的UNC80基因突变导致常染色体隐性严重婴儿脑病。
Am J Hum Genet. 2016 Jan 7;98(1):210-5. doi: 10.1016/j.ajhg.2015.11.013. Epub 2015 Dec 17.
3
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Hum Genomics. 2021 Feb 8;15(1):11. doi: 10.1186/s40246-021-00309-4.
4
Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.与智力障碍相关的 UNC80 突变揭示了 NALCN 通道复合物的亚基间相互作用和树突功能。
Nat Commun. 2020 Jul 3;11(1):3351. doi: 10.1038/s41467-020-17105-8.
5
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.功能性表达 NALCN 通道的 CLIFAHDD 和 IHPRF 致病性变异体在神经元细胞中表现出既有增益又有失能的特性。
Sci Rep. 2019 Aug 13;9(1):11791. doi: 10.1038/s41598-019-48071-x.
6
Atypical Presentation of Viral Gastroenteritis in a Three-year-old Child Due to a UNC80 Mutation.一名三岁儿童因UNC80基因突变导致的病毒性肠胃炎非典型表现。
Cureus. 2019 Apr 5;11(4):e4395. doi: 10.7759/cureus.4395.
7
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).NALCN-UNC80-UNC79 离子通道复合物成分中的遗传变异导致广泛的临床表型（NALCN 通道病）。
Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.
UNC80基因的双等位基因突变导致持续性肌张力减退、脑病、生长发育迟缓及严重智力障碍。
Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17.
4
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.UNC80突变会导致肌张力减退、严重智力障碍、运动障碍和畸形综合征，这与与其相互作用的阳离子通道NALCN中的突变所导致的综合征相似。
J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6.
5
A general framework for estimating the relative pathogenicity of human genetic variants.一种用于估计人类遗传变异相对致病性的通用框架。
Nat Genet. 2014 Mar;46(3):310-5. doi: 10.1038/ng.2892. Epub 2014 Feb 2.
6
UNC79 and UNC80, putative auxiliary subunits of the NARROW ABDOMEN ion channel, are indispensable for robust circadian locomotor rhythms in Drosophila.UNC79 和 UNC80，NARROW ABDOMEN 离子通道的假定辅助亚基，对于果蝇强有力的节律性运动行为是不可或缺的。
PLoS One. 2013 Nov 5;8(11):e78147. doi: 10.1371/journal.pone.0078147. eCollection 2013.
7
Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex.细胞外钙离子通过 UNC79-UNC80-NALCN 阳离子通道复合物控制背景电流和神经元兴奋性。
Neuron. 2010 Nov 4;68(3):488-99. doi: 10.1016/j.neuron.2010.09.014.
8
Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.肽类神经递质激活NALCN和UNC-80的阳离子通道复合体。
Nature. 2009 Feb 5;457(7230):741-4. doi: 10.1038/nature07579. Epub 2008 Dec 17.
9
Genetic analysis of crawling and swimming locomotory patterns in C. elegans.秀丽隐杆线虫爬行和游泳运动模式的遗传分析。
Proc Natl Acad Sci U S A. 2008 Dec 30;105(52):20982-7. doi: 10.1073/pnas.0810359105. Epub 2008 Dec 12.
10
A putative cation channel, NCA-1, and a novel protein, UNC-80, transmit neuronal activity in C. elegans.一种假定的阳离子通道NCA-1和一种新蛋白质UNC-80在秀丽隐杆线虫中传递神经元活动。
PLoS Biol. 2008 Mar 11;6(3):e55. doi: 10.1371/journal.pbio.0060055.