转运RNA甲基转移酶1基因（TRMT1）的突变除了导致智力残疾外，还会引起先天性小头畸形、单纯性小脑蚓部发育不全和囊性脑白质软化。 - Suppr

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.

作者信息

Blaesius Kathrin, Abbasi Ansar A, Tahir Tufail H, Tietze Anna, Picker-Minh Sylvie, Ali Ghazanfar, Farooq Sundas, Hu Hao, Latif Zahid, Khan Muhammad N, Kaindl Angela

机构信息

Institute of Neuroanatomy and Cell Biology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Berlin Institute of Health (BIH), Berlin, Germany.

出版信息

Am J Med Genet A. 2018 Nov;176(11):2517-2521. doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5.

DOI:10.1002/ajmg.a.38631

PMID:30289604

Abstract

摘要

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Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.转运RNA甲基转移酶1基因（TRMT1）的突变除了导致智力残疾外，还会引起先天性小头畸形、单纯性小脑蚓部发育不全和囊性脑白质软化。

Am J Med Genet A. 2018 Nov;176(11):2517-2521. doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5.

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.一个新的TRMT1基因突变和罕见的GRM1基因缺陷在两个阿塞拜疆家庭的智力残疾中的作用

PLoS One. 2015 Aug 26;10(8):e0129631. doi: 10.1371/journal.pone.0129631. eCollection 2015.

An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.TRMT1基因中一个与智力残疾相关的错义变异会损害tRNA修饰及酶活性的重建。

Hum Mutat. 2020 Mar;41(3):600-607. doi: 10.1002/humu.23976. Epub 2020 Jan 16.

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.tRNA甲基转移酶同源基因TRMT10A突变与人类早发型糖尿病和原发性小头畸形

PLoS Genet. 2013 Oct;9(10):e1003888. doi: 10.1371/journal.pgen.1003888. Epub 2013 Oct 31.

tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.年轻成人发病的糖尿病伴智力残疾、小头畸形和癫痫中的tRNA甲基转移酶同源基因TRMT10A突变

Diabet Med. 2016 Sep;33(9):e21-5. doi: 10.1111/dme.13024.

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.聚谷氨酰胺结合蛋白1基因（PQBP1）中的新型截短突变在另一个患有小头畸形的家族中导致伦彭宁综合征和X连锁智力障碍。

Am J Hum Genet. 2004 Apr;74(4):777-80. doi: 10.1086/383205.

TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival.TRMT1催化的tRNA修饰是氧化还原稳态所必需的，以确保细胞的正常增殖和氧化应激存活。

Mol Cell Biol. 2017 Oct 13;37(21). doi: 10.1128/MCB.00214-17. Print 2017 Nov 1.

tRNA methyltransferase 10 homologue A () mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly.一名患有糖尿病、胰岛素抵抗、智力缺陷和小头畸形的中国患者的tRNA甲基转移酶10同源物A（）突变

BMJ Open Diabetes Res Care. 2020 Oct;8(1). doi: 10.1136/bmjdrc-2020-001601.

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.溶质载体家族1成员4（SLC1A4）基因突变导致一种罕见的智力残疾、进行性小头畸形、痉挛和胼胝体变薄疾病。

Clin Genet. 2015 Oct;88(4):327-35. doi: 10.1111/cge.12637. Epub 2015 Jul 28.

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.两个与伴有严重小头畸形、生长发育迟缓及癫痫的综合征性智力障碍相关的新型EIF2S3突变。

Am J Med Genet A. 2016 Nov;170(11):2927-2933. doi: 10.1002/ajmg.a.37792. Epub 2016 Jun 22.

引用本文的文献

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.TRMT1基因的双等位基因致病性变异会破坏tRNA修饰并引发一种神经发育障碍。

Am J Hum Genet. 2025 May 1;112(5):1117-1138. doi: 10.1016/j.ajhg.2025.03.015. Epub 2025 Apr 16.

Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs.人类TRMT1和TRMT1L旁系同源基因确保了tRNA的正确修饰状态、稳定性和功能。

Cell Rep. 2025 Jan 28;44(1):115092. doi: 10.1016/j.celrep.2024.115092. Epub 2025 Jan 8.

Recognition and cleavage of human tRNA methyltransferase TRMT1 by the SARS-CoV-2 main protease.新型冠状病毒2型主要蛋白酶对人tRNA甲基转移酶TRMT1的识别与切割

Elife. 2025 Jan 7;12:RP91168. doi: 10.7554/eLife.91168.

Proteolytic cleavage and inactivation of the TRMT1 tRNA modification enzyme by SARS-CoV-2 main protease.SARS-CoV-2 主蛋白酶对 TRMT1 tRNA 修饰酶的蛋白水解切割和失活。

Elife. 2024 May 30;12:RP90316. doi: 10.7554/eLife.90316.

Advances in brain epitranscriptomics research and translational opportunities.脑表遗传学研究进展与转化机遇

Mol Psychiatry. 2024 Feb;29(2):449-463. doi: 10.1038/s41380-023-02339-x. Epub 2023 Dec 20.

Investigations of Single-Subunit tRNA Methyltransferases from Yeast.来自酵母的单亚基tRNA甲基转移酶的研究。

J Fungi (Basel). 2023 Oct 19;9(10):1030. doi: 10.3390/jof9101030.

Proteolytic cleavage and inactivation of the TRMT1 tRNA modification enzyme by SARS-CoV-2 main protease.严重急性呼吸综合征冠状病毒2型（SARS-CoV-2）主要蛋白酶对TRMT1 tRNA修饰酶的蛋白水解切割与失活作用

bioRxiv. 2024 Jan 12:2023.02.10.527147. doi: 10.1101/2023.02.10.527147.

Human TRMT1 catalyzes mG or mG formation on tRNAs in a substrate-dependent manner.人类TRMT1以底物依赖的方式催化tRNA上mG或mG的形成。

Sci China Life Sci. 2023 Oct;66(10):2295-2309. doi: 10.1007/s11427-022-2295-0. Epub 2023 May 11.

The life and times of a tRNA.tRNA 的一生和时代。

RNA. 2023 Jul;29(7):898-957. doi: 10.1261/rna.079620.123. Epub 2023 Apr 13.

THUMPD3-TRMT112 is a m2G methyltransferase working on a broad range of tRNA substrates.THUMPD3-TRMT112 是一种 m2G 甲基转移酶，作用于广泛的 tRNA 底物。

Nucleic Acids Res. 2021 Nov 18;49(20):11900-11919. doi: 10.1093/nar/gkab927.

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Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.

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