以新生血管性青光眼首診的<i>TREX1</i>基因變異Aicardi-Goutières綜合征1型1例_Chinese Journal of Ocular Fundus Diseases

Authors：

李雯靖 , 蔣夢雨 , 陳曉敏 ,  柯敏

武漢大學中南醫院眼科, 武漢 430071;

Corresponding?author：

柯敏, Email: keminyk@163.com

Keywords：

TREX1基因; Aicardi-Goutières綜合征1型; 新生血管性青光眼; 病例報告

DOI：

10.3760/cma.j.cn511434-20251220-00590

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Citation： 李雯靖, 蔣夢雨, 陳曉敏, 柯敏. 以新生血管性青光眼首診的TREX1基因變異Aicardi-Goutières綜合征1型1例. Chinese Journal of Ocular Fundus Diseases, 2026, 42(5): 448-451. doi: 10.3760/cma.j.cn511434-20251220-00590 Copy

1.	Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis[J]. Ann Neurol, 1984, 15(1): 49-54. DOI: 10.1002/ana.410150109.
2.	Fazzi E, Cattalini M, Orcesi S, et al. Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?[J]. Autoimmun Rev, 2013, 12(4): 506-509. DOI: 10.1016/j.autrev.2012.08.012.
3.	Crow YJ, Manel N. Aicardi-Goutières syndrome and the type Ⅰ interferonopathies[J]. Nat Rev Immunol, 2015, 15(7): 429-440. DOI: 10.1038/nri3850.
4.	Crow YJ, Shetty J, Livingston JH. Treatments in Aicardi-Goutières syndrome[J]. Dev Med Child Neurol, 2020, 62(1): 42-47. DOI: 10.1111/dmcn.14268.
5.	Adang L, Gavazzi F, De Simone M, et al. Developmental outcomes of Aicardi Goutières syndrome[J]. J Child Neurol, 2020, 35(1): 7-16. DOI: 10.1177/0883073819870944.
6.	Rice G, Patrick T, Parmar R, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome[J]. Am J Hum Genet, 2007, 81(4): 713-725. DOI: 10.1086/521373.
7.	季濤云, 王靜敏, 李慧娟, 等. Aicardi-Goutières綜合征一家系并文獻復習[J]. 中華兒科雜志, 2014, 52(11): 822-827. DOI: 10.3760/cma.j.issn.0578-1310.2014.11.006.Ji TY, Wang JM, Li HJ, et al. Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review[J]. Chin J Pediatr, 2014, 52(11): 822-827. DOI: 10.3760/cma.j.issn.0578-1310.2014.11.006.
8.	Al Mutairi F, Alfadhel M, Nashabat M, et al. Phenotypic and molecular spectrum of Aicardi-Goutières syndrome: a study of 24 patients[J]. Pediatr Neurol, 2018, 78: 35-40. DOI: 10.1016/j.pediatrneurol.2017.09.002.
9.	Crow YJ, Chase DS, Lowenstein Schmidt J, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1[J]. Am J Med Genet A, 2015, 167(2): 296-312. DOI: 10.1002/ajmg.a.36887.
10.	Vanderver A, Prust M, Kadom N, et al. Early-onset Aicardi-Goutières syndrome: magnetic resonance imaging (MRI) pattern recognition[J]. J Child Neurol, 2015, 30(10): 1343-1348. DOI: 10.1177/0883073814562252.
11.	Wu D, Fang L, Huang T, et al. Case report: Aicardi-Goutières syndrome caused by novel TREX1 variants[J/OL]. Front Pediatr, 2021, 9: 634281[2021-04-28]. https://pubmed.ncbi.nlm.nih.gov/33996686/. DOI: 10.3389/fped.2021.634281.
12.	Ramesh V, Bernardi B, Stafa A, et al. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis[J]. Dev Med Child Neurol, 2010, 52(8): 725-732. DOI: 10.1111/j.1469-8749.2010.03727.x.
13.	Wu CC, Peng SS, Lee WT. Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report[J]. Neurol Sci, 2020, 41(11): 3353-3356. DOI: 10.1007/s10072-020-04516-0.
14.	Crow YJ, Massey RF, Innes JR, et al. Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome[J]. Am J Med Genet A, 2004, 129(3): 303-307. DOI: 10.1002/ajmg.a.30250.
15.	?wierczyńska M, Tronina A, Filipek E. Aicardi-Goutières syndrome with congenital glaucoma caused by novel TREX1 mutation[J/OL]. J Pers Med, 2023, 13(11): 1609[2023-11-15]. https://pubmed.ncbi.nlm.nih.gov/38003924/. DOI: 10.3390/jpm13111609.
16.	Mazur DJ, Perrino FW. Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases[J]. J Biol Chem, 1999, 274(28): 19655-19660. DOI: 10.1074/jbc.274.28.19655.
17.	Simpson SR, Hemphill WO, Hudson T, et al. TREX1-Apex predator of cytosolic DNA metabolism[J/OL]. DNA Repair (Amst), 2020, 94: 102894[2020-06-12]. https://pubmed.ncbi.nlm.nih.gov/32615442/. DOI: 10.1016/j.dnarep.2020.102894.
18.	Huang KW, Liu TC, Liang RY, et al. Structural basis for overhang excision and terminal unwinding of DNA duplexes by TREX1[J/OL]. PLoS Biol, 2018, 16(5): e2005653[2018-05-07]. https://pubmed.ncbi.nlm.nih.gov/29734329/. DOI: 10.1371/journal.pbio.2005653.
19.	Rice GI, Rodero MP, Crow YJ. Human disease phenotypes associated with mutations in TREX1[J]. J Clin Immunol, 2015, 35(3): 235-243. DOI: 10.1007/s10875-015-0147-3.
20.	Yan N. Immune Diseases Associated with TREX1 and STING dysfunction[J]. J Interferon Cytokine Res, 2017, 37(5): 198-206. 10.1089/jir. 2016.0086: 10.1089/jir. 2016.0086.
21.	王秋菊, 沈亦平, 陳少科, 等. 遺傳變異分類標準與指南[J]. 中國科學, 2017, 47(6): 668-688. DOI: 10.1360/N052017-00099.Wang QJ, Shen YP, Chen SK, et al. Standards and guidelines for the interpretation of sequence variants[J]. Science in China, 2017, 47(6): 668-688. DOI: 10.1360/N052017-00099.
22.	Yu-Chuan Kang E, Chong YJ, Lien R, et al. A rare case of bilateral vitreoretinopathy of Aicardi syndrome[J/OL]. Am J Ophthalmol Case Rep, 2022, 26: 101467[2022-03-04]. https://pubmed.ncbi.nlm.nih.gov/35345580/. DOI: 10.1016/j.ajoc.2022.101467.10.1016/j.ajoc.2022.101467.
23.	Wang W, Wang W, He TY, et al. Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China[J]. World J Pediatr, 2022, 18(7): 490-497. DOI: 10.1007/s12519-022-00545-1.
24.	Kuang SY, Li Y, Yang SL, et al. Child neurology: Aicardi-Goutières syndrome presenting as recurrent ischemic stroke[J]. Neurology, 2022, 99(9): 393-398. DOI: 10.1212/WNL.0000000000200952.
25.	Wu CY, Fan WL, Yang HY, et al. Contribution of genetic variants associated with primary immunodeficiencies to childhood-onset systemic lupus erythematous[J]. J Allergy Clin Immunol, 2023, 151(4): 1123-1131. DOI: 10.1016/j.jaci.2022.12.807.
26.	Chenhan Z, Jun S, Yang D, et al. A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation[J/OL]. BMC Pregnancy Childbirth, 2023, 23(1): 124[2023-02-22]. https://pubmed.ncbi.nlm.nih.gov/36814213/. DOI: 10.1186/s12884-023-05436-5.
27.	Zhang S, Zhang W, Ding C, et al. Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China[J]. Pediatr Investig, 2024, 8(3): 193-200. DOI: 10.1002/ped4.12428.
28.	Dell'Isola GB, Dini G, Culpepper KL, et al. Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome[J]. World J Pediatr, 2023, 19(7): 635-643. DOI: 10.1007/s12519-022-00679-2.
29.	Kretschmer S, Lee-Kirsch MA. Type I interferon-mediated autoinflammation and autoimmunity[J]. Curr Opin Immunol, 2017, 49: 96-102. DOI: 10.1016/j.coi.2017.09.003.
30.	R?nnblom L. The importance of the type I interferon system in autoimmunity[J]. Clin Exp Rheumatol, 2016, 34(98): 21-24.
31.	Hofer MJ, Campbell IL. Type I interferon in neurological disease-the devil from within[J]. Cytokine Growth Factor Rev, 2013, 24(3): 257-267. DOI: 10.1016/j.cytogfr.2013.03.006.
32.	Vanderver A, Adang L, Gavazzi F, et al. Janus Kinase Inhibition in the Aicardi-Goutières Syndrome[J]. N Engl J Med, 2020, 383(10): 986-989. DOI: 10.1056/NEJMc2001362.

1. Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis[J]. Ann Neurol, 1984, 15(1): 49-54. DOI: 10.1002/ana.410150109.
2. Fazzi E, Cattalini M, Orcesi S, et al. Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?[J]. Autoimmun Rev, 2013, 12(4): 506-509. DOI: 10.1016/j.autrev.2012.08.012.
3. Crow YJ, Manel N. Aicardi-Goutières syndrome and the type Ⅰ interferonopathies[J]. Nat Rev Immunol, 2015, 15(7): 429-440. DOI: 10.1038/nri3850.
4. Crow YJ, Shetty J, Livingston JH. Treatments in Aicardi-Goutières syndrome[J]. Dev Med Child Neurol, 2020, 62(1): 42-47. DOI: 10.1111/dmcn.14268.
5. Adang L, Gavazzi F, De Simone M, et al. Developmental outcomes of Aicardi Goutières syndrome[J]. J Child Neurol, 2020, 35(1): 7-16. DOI: 10.1177/0883073819870944.
6. Rice G, Patrick T, Parmar R, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome[J]. Am J Hum Genet, 2007, 81(4): 713-725. DOI: 10.1086/521373.
7. 季濤云, 王靜敏, 李慧娟, 等. Aicardi-Goutières綜合征一家系并文獻復習[J]. 中華兒科雜志, 2014, 52(11): 822-827. DOI: 10.3760/cma.j.issn.0578-1310.2014.11.006.Ji TY, Wang JM, Li HJ, et al. Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review[J]. Chin J Pediatr, 2014, 52(11): 822-827. DOI: 10.3760/cma.j.issn.0578-1310.2014.11.006.
8. Al Mutairi F, Alfadhel M, Nashabat M, et al. Phenotypic and molecular spectrum of Aicardi-Goutières syndrome: a study of 24 patients[J]. Pediatr Neurol, 2018, 78: 35-40. DOI: 10.1016/j.pediatrneurol.2017.09.002.
9. Crow YJ, Chase DS, Lowenstein Schmidt J, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1[J]. Am J Med Genet A, 2015, 167(2): 296-312. DOI: 10.1002/ajmg.a.36887.
10. Vanderver A, Prust M, Kadom N, et al. Early-onset Aicardi-Goutières syndrome: magnetic resonance imaging (MRI) pattern recognition[J]. J Child Neurol, 2015, 30(10): 1343-1348. DOI: 10.1177/0883073814562252.
11. Wu D, Fang L, Huang T, et al. Case report: Aicardi-Goutières syndrome caused by novel TREX1 variants[J/OL]. Front Pediatr, 2021, 9: 634281[2021-04-28]. https://pubmed.ncbi.nlm.nih.gov/33996686/. DOI: 10.3389/fped.2021.634281.
12. Ramesh V, Bernardi B, Stafa A, et al. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis[J]. Dev Med Child Neurol, 2010, 52(8): 725-732. DOI: 10.1111/j.1469-8749.2010.03727.x.
13. Wu CC, Peng SS, Lee WT. Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report[J]. Neurol Sci, 2020, 41(11): 3353-3356. DOI: 10.1007/s10072-020-04516-0.
14. Crow YJ, Massey RF, Innes JR, et al. Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome[J]. Am J Med Genet A, 2004, 129(3): 303-307. DOI: 10.1002/ajmg.a.30250.
15. ?wierczyńska M, Tronina A, Filipek E. Aicardi-Goutières syndrome with congenital glaucoma caused by novel TREX1 mutation[J/OL]. J Pers Med, 2023, 13(11): 1609[2023-11-15]. https://pubmed.ncbi.nlm.nih.gov/38003924/. DOI: 10.3390/jpm13111609.
16. Mazur DJ, Perrino FW. Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases[J]. J Biol Chem, 1999, 274(28): 19655-19660. DOI: 10.1074/jbc.274.28.19655.
17. Simpson SR, Hemphill WO, Hudson T, et al. TREX1-Apex predator of cytosolic DNA metabolism[J/OL]. DNA Repair (Amst), 2020, 94: 102894[2020-06-12]. https://pubmed.ncbi.nlm.nih.gov/32615442/. DOI: 10.1016/j.dnarep.2020.102894.
18. Huang KW, Liu TC, Liang RY, et al. Structural basis for overhang excision and terminal unwinding of DNA duplexes by TREX1[J/OL]. PLoS Biol, 2018, 16(5): e2005653[2018-05-07]. https://pubmed.ncbi.nlm.nih.gov/29734329/. DOI: 10.1371/journal.pbio.2005653.
19. Rice GI, Rodero MP, Crow YJ. Human disease phenotypes associated with mutations in TREX1[J]. J Clin Immunol, 2015, 35(3): 235-243. DOI: 10.1007/s10875-015-0147-3.
20. Yan N. Immune Diseases Associated with TREX1 and STING dysfunction[J]. J Interferon Cytokine Res, 2017, 37(5): 198-206. 10.1089/jir. 2016.0086: 10.1089/jir. 2016.0086.
21. 王秋菊, 沈亦平, 陳少科, 等. 遺傳變異分類標準與指南[J]. 中國科學, 2017, 47(6): 668-688. DOI: 10.1360/N052017-00099.Wang QJ, Shen YP, Chen SK, et al. Standards and guidelines for the interpretation of sequence variants[J]. Science in China, 2017, 47(6): 668-688. DOI: 10.1360/N052017-00099.
22. Yu-Chuan Kang E, Chong YJ, Lien R, et al. A rare case of bilateral vitreoretinopathy of Aicardi syndrome[J/OL]. Am J Ophthalmol Case Rep, 2022, 26: 101467[2022-03-04]. https://pubmed.ncbi.nlm.nih.gov/35345580/. DOI: 10.1016/j.ajoc.2022.101467.10.1016/j.ajoc.2022.101467.
23. Wang W, Wang W, He TY, et al. Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China[J]. World J Pediatr, 2022, 18(7): 490-497. DOI: 10.1007/s12519-022-00545-1.
24. Kuang SY, Li Y, Yang SL, et al. Child neurology: Aicardi-Goutières syndrome presenting as recurrent ischemic stroke[J]. Neurology, 2022, 99(9): 393-398. DOI: 10.1212/WNL.0000000000200952.
25. Wu CY, Fan WL, Yang HY, et al. Contribution of genetic variants associated with primary immunodeficiencies to childhood-onset systemic lupus erythematous[J]. J Allergy Clin Immunol, 2023, 151(4): 1123-1131. DOI: 10.1016/j.jaci.2022.12.807.
26. Chenhan Z, Jun S, Yang D, et al. A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation[J/OL]. BMC Pregnancy Childbirth, 2023, 23(1): 124[2023-02-22]. https://pubmed.ncbi.nlm.nih.gov/36814213/. DOI: 10.1186/s12884-023-05436-5.
27. Zhang S, Zhang W, Ding C, et al. Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China[J]. Pediatr Investig, 2024, 8(3): 193-200. DOI: 10.1002/ped4.12428.
28. Dell'Isola GB, Dini G, Culpepper KL, et al. Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome[J]. World J Pediatr, 2023, 19(7): 635-643. DOI: 10.1007/s12519-022-00679-2.
29. Kretschmer S, Lee-Kirsch MA. Type I interferon-mediated autoinflammation and autoimmunity[J]. Curr Opin Immunol, 2017, 49: 96-102. DOI: 10.1016/j.coi.2017.09.003.
30. R?nnblom L. The importance of the type I interferon system in autoimmunity[J]. Clin Exp Rheumatol, 2016, 34(98): 21-24.
31. Hofer MJ, Campbell IL. Type I interferon in neurological disease-the devil from within[J]. Cytokine Growth Factor Rev, 2013, 24(3): 257-267. DOI: 10.1016/j.cytogfr.2013.03.006.
32. Vanderver A, Adang L, Gavazzi F, et al. Janus Kinase Inhibition in the Aicardi-Goutières Syndrome[J]. N Engl J Med, 2020, 383(10): 986-989. DOI: 10.1056/NEJMc2001362.

Previous Article
首診眼科的漿細胞白血病1例
Next Article
繼發于系統性紅斑狼瘡的單眼Purtscher樣視網膜病變1例

Chinese Journal of Ocular Fundus Diseases

以新生血管性青光眼首診的TREX1基因變異Aicardi-Goutières綜合征1型1例

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content