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A rare autoinflammatory syndrome associated with a C2orf69 frameshift mutation: a case report.

作者信息

Türkmen Şeyma, Yarar Murat Hakkı, Tosun İlkay, Bozkurt Hayrunnisa Bekis, Sözeri Betül

机构信息

Department of Pediatric Rheumatology, Health Sciences University, Ümraniye Training and Research Hospital, Istanbul, Turkey.

Department of Clinical Genetics, Health Sciences University, Ümraniye Training and Research Hospital, Istanbul, Turkey.

出版信息

Immunol Res. 2025 Sep 19;73(1):134. doi: 10.1007/s12026-025-09693-8.

DOI:10.1007/s12026-025-09693-8
PMID:40971009
Abstract
摘要

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2
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Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25.
3
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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.C2orf69缺失在人类和斑马鱼中定义了一种致命的自身炎症综合征，该综合征引发了与糖原储存相关的线粒体病。
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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.C2orf69 突变会破坏线粒体功能，并导致一种多系统人类疾病，伴有反复发生的自身炎症。
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本文引用的文献

1
A genomic mutational constraint map using variation in 76,156 human genomes.基于 76156 个人类基因组的变异，绘制出基因组突变约束图谱。
Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6.
2
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.一个新的 C2orf69 双等位基因突变导致发育迟缓、癫痫、小头畸形、自闭症特征和张力亢进。
Am J Med Genet A. 2023 Sep;191(9):2446-2450. doi: 10.1002/ajmg.a.63310. Epub 2023 Jun 20.
3
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
C2orf69 的缺失在人类和斑马鱼中定义了一种致命的自身炎症综合征，引发了与糖原储存相关的线粒体病。
Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25.
4
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.C2orf69 突变会破坏线粒体功能，并导致一种多系统人类疾病，伴有反复发生的自身炎症。
J Clin Invest. 2021 Jun 15;131(12). doi: 10.1172/JCI143078.
5
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
6
ClinVar: public archive of relationships among sequence variation and human phenotype.ClinVar：序列变异与人类表型之间关系的公共档案。
Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5. doi: 10.1093/nar/gkt1113. Epub 2013 Nov 14.
7
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.HLH-2004：噬血细胞性淋巴组织细胞增生症的诊断与治疗指南。
Pediatr Blood Cancer. 2007 Feb;48(2):124-31. doi: 10.1002/pbc.21039.