CLPP 纯合新型截断变异与严重的 Perrault 综合征相关。
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
机构信息
Laboratory of Molecular Genetics, NIDCD, NIH, Bethesda, Maryland, USA.
Office of the Clinical Director, Intramural Research Program, NINDS, NIH, Bethesda, Maryland, USA.
出版信息
Clin Genet. 2024 May;105(5):584-586. doi: 10.1111/cge.14514. Epub 2024 Mar 7.
Abstract
A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.
摘要
先证者及其患病的侄女均为 CLPP 的新型移码变异纯合子。先证者被诊断为严重的 Perrault 综合征，包括听力损失、原发性卵巢功能不全、脑白质异常和发育迟缓。
相似文献
1
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.CLPP 纯合新型截断变异与严重的 Perrault 综合征相关。
Clin Genet. 2024 May;105(5):584-586. doi: 10.1111/cge.14514. Epub 2024 Mar 7.
2
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.在一个患II型佩罗特综合征的中国汉族近亲家庭中鉴定出HSD17B4基因的纯合错义变异。
BMC Med Genet. 2017 Aug 23;18(1):91. doi: 10.1186/s12881-017-0453-0.
3
Expanding the genotypic spectrum of Perrault syndrome.扩展佩罗特综合征的基因型谱。
Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1.
4
CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.导致中国汉族家庭3型佩罗综合征的CLPP基因变异：一项基因型-表型研究。
Hum Genomics. 2025 May 23;19(1):60. doi: 10.1186/s40246-025-00762-5.
5
Marfanoid habitus is a nonspecific feature of Perrault syndrome.蜘蛛样体型是佩罗特综合征的非特异性特征。
Clin Dysmorphol. 2017 Oct;26(4):200-204. doi: 10.1097/MCD.0000000000000198.
6
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.伴有神经学特征的 Perrault 综合征患者为 TWNK 基因突变的复合杂合子：TWNK 相关隐性疾病的重叠。
J Transl Med. 2019 Aug 28;17(1):290. doi: 10.1186/s12967-019-2041-x.
7
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.LARS2 基因突变导致 Perrault 综合征患者出现卵巢早衰和听力损失，该基因编码线粒体亮氨酰-tRNA 合成酶。
Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar 28.
8
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.LARS2基因的双等位基因突变可导致伴有神经症状的2型佩罗特综合征。
Am J Med Genet A. 2018 Feb;176(2):404-408. doi: 10.1002/ajmg.a.38552. Epub 2017 Dec 3.
9
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.佩罗特综合征的新认识，一种临床表现和遗传异质性的疾病。
Hum Genet. 2022 Apr;141(3-4):805-819. doi: 10.1007/s00439-021-02319-7. Epub 2021 Aug 2.
10
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.SGO2和CLDN14的突变共同导致巧合性佩罗特综合征。
Clin Genet. 2017 Feb;91(2):328-332. doi: 10.1111/cge.12867. Epub 2016 Nov 16.
引用本文的文献
1
Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.伊朗家庭中佩罗特综合征的遗传病因：来自伊朗的首次报告及文献综述
J Appl Genet. 2025 Jan 23. doi: 10.1007/s13353-025-00940-0.
2
Knockout Mouse Studies Show That Mitochondrial CLPP Peptidase and CLPX Unfoldase Act in Matrix Condensates near IMM, as Fast Stress Response in Protein Assemblies for Transcript Processing, Translation, and Heme Production.敲除小鼠研究表明，线粒体 CLPP 肽酶和 CLPX 解折叠酶在 IMM 附近的基质凝聚物中发挥作用，作为蛋白质组装的快速应激反应，用于转录加工、翻译和血红素生成。
Genes (Basel). 2024 May 27;15(6):694. doi: 10.3390/genes15060694.
3
Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.由于线粒体蛋白质合成缺陷导致的线粒体疾病中的分子途径。
Front Cell Dev Biol. 2024 May 24;12:1410245. doi: 10.3389/fcell.2024.1410245. eCollection 2024.
本文引用的文献
1
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.线粒体 RNA 酶 P 亚基 PRORP 的双等位基因变异导致线粒体 tRNA 加工缺陷和多系统表现的多效性。
Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28.
2
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.佩罗特综合征的新认识，一种临床表现和遗传异质性的疾病。
Hum Genet. 2022 Apr;141(3-4):805-819. doi: 10.1007/s00439-021-02319-7. Epub 2021 Aug 2.
3
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.特定的MRI异常揭示了由CLPP缺陷导致的严重佩罗综合征。
Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016.
4
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.SGO2和CLDN14的突变共同导致巧合性佩罗特综合征。
Clin Genet. 2017 Feb;91(2):328-332. doi: 10.1111/cge.12867. Epub 2016 Nov 16.
5
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.佩罗特综合征是由 CLPP 基因的隐性突变引起的，该基因编码一种线粒体 ATP 依赖性有腔蛋白酶。
Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28.
Zotero 插件