A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review
ObjectiveTo explore the clinical and genetic features of Aicardi-Goutières syndrome (AGS) caused by IFIH1 gene mutation.MethodsWe analyzed the clinical features and genetic mutation results of a boy with AGS type 7 and conducted a retrospective review of the literature of the characteristics and cli...
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Editorial Office of Journal of Rare Diseases
2024-10-01
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| Series: | 罕见病研究 |
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| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.007 |
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| author | ZHAO Min SHU Zhou HAN Tongxin FU Yanhua GAO Tianji MAO Huawei |
| author_facet | ZHAO Min SHU Zhou HAN Tongxin FU Yanhua GAO Tianji MAO Huawei |
| author_sort | ZHAO Min |
| collection | DOAJ |
| description | ObjectiveTo explore the clinical and genetic features of Aicardi-Goutières syndrome (AGS) caused by IFIH1 gene mutation.MethodsWe analyzed the clinical features and genetic mutation results of a boy with AGS type 7 and conducted a retrospective review of the literature of the characteristics and clinical features of IFIH1 gene mutations in AGS type 7.ResultsIn the case of this report, the patient, 13-year-old boy, exhibited gait abnormalities at age 3. As the condition was progressive, the boy has paraplegia of the lower limbs. The first brain MRI showed no lesions.Rehabilitation therapy in the past several years has shown no improvement.Recent brain CT revealed multiple intracranial calcifications. The whole-exome sequencing identified a heterozygous mutation in the IFIH1 gene (c.2159G > A, p.R720Q)- a known pathogenic mutation. Through review of the literature, we identified 69 cases of AGS type 7 (including the case reported here)which showed that skin and neurological system involvement are most commonly seen. Among these 69 patients, there were 30 different mutations in the IFIH1 gene, all of which are missense mutations. Seven patients had the same gene mutation as the boy in this study does, but their clinical features differed. In terms of treatment, Janus kainase(JAK) inhibitors are commonly used.Additionally, recent reports showed that tocilizumab treatment have been used for this condition.ConclusionsAGS7 is a type of I interferonopathy. Growth retardation and nervous system involvement are the most prevalent.The condition usually involve the skin, blood system, digestive system, kidney, heart, and other organs. JAK inhibitors prove effective for this disease. |
| format | Article |
| id | doaj-art-9ee82cb9ad5840de8cdbbe681acaf3f8 |
| institution | OA Journals |
| issn | 2097-0501 |
| language | zho |
| publishDate | 2024-10-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj-art-9ee82cb9ad5840de8cdbbe681acaf3f82025-08-20T02:35:31ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012024-10-013445346010.12376/j.issn.2097-0501.2024.04.007A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature ReviewZHAO Min0SHU Zhou1HAN Tongxin2FU Yanhua3GAO Tianji4MAO HuaweiDepartment of Rheumatology and Immunology, Baoding Hospital of Beijing Children′s Hospital, Capital Medical University, Baoding 071051, ChinaDepartment of Immunology, National Center for Children′s Health, Beijing Children′s Hospital, Capital Medical University, Beijing 100045, ChinaDepartment of Immunology, National Center for Children′s Health, Beijing Children′s Hospital, Capital Medical University, Beijing 100045, ChinaDepartment of Rheumatology and Immunology, Baoding Hospital of Beijing Children′s Hospital, Capital Medical University, Baoding 071051, ChinaDepartment of Rheumatology and Immunology, Baoding Hospital of Beijing Children′s Hospital, Capital Medical University, Baoding 071051, ChinaObjectiveTo explore the clinical and genetic features of Aicardi-Goutières syndrome (AGS) caused by IFIH1 gene mutation.MethodsWe analyzed the clinical features and genetic mutation results of a boy with AGS type 7 and conducted a retrospective review of the literature of the characteristics and clinical features of IFIH1 gene mutations in AGS type 7.ResultsIn the case of this report, the patient, 13-year-old boy, exhibited gait abnormalities at age 3. As the condition was progressive, the boy has paraplegia of the lower limbs. The first brain MRI showed no lesions.Rehabilitation therapy in the past several years has shown no improvement.Recent brain CT revealed multiple intracranial calcifications. The whole-exome sequencing identified a heterozygous mutation in the IFIH1 gene (c.2159G > A, p.R720Q)- a known pathogenic mutation. Through review of the literature, we identified 69 cases of AGS type 7 (including the case reported here)which showed that skin and neurological system involvement are most commonly seen. Among these 69 patients, there were 30 different mutations in the IFIH1 gene, all of which are missense mutations. Seven patients had the same gene mutation as the boy in this study does, but their clinical features differed. In terms of treatment, Janus kainase(JAK) inhibitors are commonly used.Additionally, recent reports showed that tocilizumab treatment have been used for this condition.ConclusionsAGS7 is a type of I interferonopathy. Growth retardation and nervous system involvement are the most prevalent.The condition usually involve the skin, blood system, digestive system, kidney, heart, and other organs. JAK inhibitors prove effective for this disease.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.007aicardi-goutières syndromeifih1 genegene mutationrare diseases |
| spellingShingle | ZHAO Min SHU Zhou HAN Tongxin FU Yanhua GAO Tianji MAO Huawei A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review 罕见病研究 aicardi-goutières syndrome ifih1 gene gene mutation rare diseases |
| title | A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review |
| title_full | A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review |
| title_fullStr | A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review |
| title_full_unstemmed | A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review |
| title_short | A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review |
| title_sort | case report of aicardi goutieres syndrome type 7 caused by ifih1 gene mutation and a literature review |
| topic | aicardi-goutières syndrome ifih1 gene gene mutation rare diseases |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.007 |
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