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含三联基序蛋白8（TRIM8）基因中的无义突变，类似于胶原病。

A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy.

作者信息

Rahman Rehna K, T Harisankar, Mohanlal Smilu, Pachat Divya, Kuruvilla Shalini, Sharma Shephali

机构信息

Department of Pediatrics, Aster MIMS Hospital, Calicut, Kerala, 673017, India.

Dr Lalpath Lab, New Delhi, India.

出版信息

Pediatr Nephrol. 2025 May;40(5):1579-1581. doi: 10.1007/s00467-024-06636-7. Epub 2024 Dec 21.

DOI:10.1007/s00467-024-06636-7
PMID:39708126
Abstract

Tripartite motif-containing 8 (TRIM8) gene mutations are associated with autosomal dominantly inherited neurorenal syndrome. The kidney manifestations range from nephrotic range proteinuria to nephrotic syndrome and kidney failure. The histopathology has been focal segmental glomerulosclerosis (FSGS) in all reported cases. We now report a nonsense mutation in TRIM8 in a 1-year-old boy, mimicking collagenopathy in kidney biopsy.

摘要

含三联基序蛋白8（TRIM8）基因突变与常染色体显性遗传神经肾综合征相关。肾脏表现从肾病范围蛋白尿到肾病综合征及肾衰竭不等。在所有已报道病例中，组织病理学表现均为局灶节段性肾小球硬化（FSGS）。我们现报告一名1岁男孩TRIM8基因存在无义突变，其肾脏活检表现类似胶原病。

相似文献

1
A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy.含三联基序蛋白8（TRIM8）基因中的无义突变，类似于胶原病。
Pediatr Nephrol. 2025 May;40(5):1579-1581. doi: 10.1007/s00467-024-06636-7. Epub 2024 Dec 21.
2
Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis.TRIM8 基因的从头性无义突变与儿童局灶节段性肾小球硬化的关联。
Pediatr Nephrol. 2020 Jun;35(6):1129-1132. doi: 10.1007/s00467-020-04525-3. Epub 2020 Mar 19.
3
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.从头 TRIM8 变异会损害其蛋白在核体内的定位，并导致发育迟缓、癫痫和局灶节段性肾小球硬化症。
Am J Hum Genet. 2021 Feb 4;108(2):357-367. doi: 10.1016/j.ajhg.2021.01.008. Epub 2021 Jan 27.
4
A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report.一个新的从头截短的 TRIM8 变异体与儿童期发病的局灶性节段性肾小球硬化症而无癫痫性脑病相关：病例报告。
BMC Nephrol. 2021 Dec 20;22(1):417. doi: 10.1186/s12882-021-02626-1.
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De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review.TRIM8 新发截短变异与非典型神经-肾综合征：病例报告及文献复习。
Ital J Pediatr. 2023 Apr 15;49(1):46. doi: 10.1186/s13052-023-01453-4.
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Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.一名患有新型从头截断型TRIM8突变的患者出现局灶节段性肾小球硬化和轻度智力障碍。
Eur J Med Genet. 2020 Sep;63(9):103972. doi: 10.1016/j.ejmg.2020.103972. Epub 2020 Jun 10.
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A Rare De Novo Mutation in the Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.一名17岁患类固醇抵抗性肾病综合征男孩的基因罕见新发突变：病例报告
Int J Mol Sci. 2024 Apr 19;25(8):4486. doi: 10.3390/ijms25084486.
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Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the Gene: A Case Report and Literature Review.两名因该基因无义突变导致类固醇抵抗性显著蛋白尿的儿童：病例报告及文献综述
Front Pediatr. 2022 Jul 12;10:918373. doi: 10.3389/fped.2022.918373. eCollection 2022.
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De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.TRIM8的从头截断突变导致早发性癫痫性脑病。
Ann Hum Genet. 2016 Jul;80(4):235-40. doi: 10.1111/ahg.12157.
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Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel pathogenic variation in TRIM8 gene: A case report.一名携带TRIM8基因新型致病变异的中国患者出现局灶节段性肾小球硬化和神经源性膀胱：病例报告
SAGE Open Med Case Rep. 2024 Dec 11;12:2050313X241305905. doi: 10.1177/2050313X241305905. eCollection 2024.

本文引用的文献

1
Variants loci and phenotype correlation of related neuro-renal syndrome: three cases reports and literature review.相关神经-肾综合征的变异位点与表型相关性：三例报告及文献综述
Front Neurol. 2024 Oct 1;15:1410187. doi: 10.3389/fneur.2024.1410187. eCollection 2024.
2
Thin basement membrane lesion is not only a collagen IV nephropathy: do not underestimate "decorative" additions to collagens.薄基底膜病变不仅仅是IV型胶原肾病：不要低估胶原蛋白的“修饰”添加物。
Kidney Int. 2022 Dec;102(6):1203-1205. doi: 10.1016/j.kint.2022.08.014. Epub 2022 Aug 27.
3
Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.
与 Myo1E 突变相关的局灶节段性肾小球硬化症和蛋白尿：新型变异体和组织学表型分析。
Pediatr Nephrol. 2023 Feb;38(2):439-449. doi: 10.1007/s00467-022-05634-x. Epub 2022 Jun 20.
4
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.从头 TRIM8 变异会损害其蛋白在核体内的定位，并导致发育迟缓、癫痫和局灶节段性肾小球硬化症。
Am J Hum Genet. 2021 Feb 4;108(2):357-367. doi: 10.1016/j.ajhg.2021.01.008. Epub 2021 Jan 27.
5
Glomerular pathology in autosomal dominant MYH9 spectrum disorders: what are the clues telling us about disease mechanism?常染色体显性遗传 MYH9 相关疾病的肾小球病理学：这些线索能告诉我们什么疾病机制？
Kidney Int. 2010 Jul;78(2):130-3. doi: 10.1038/ki.2010.82.