Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations
Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R;...
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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.2097-0501.2024.04.014 |
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| author | ZHU Ke SUN Bijun WANG Wenjie ZHOU Qinhua LIU Luyao HOU Jia WANG Xiaochuan SUN Jinqiao |
| author_facet | ZHU Ke SUN Bijun WANG Wenjie ZHOU Qinhua LIU Luyao HOU Jia WANG Xiaochuan SUN Jinqiao |
| author_sort | ZHU Ke |
| collection | DOAJ |
| description | Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R; c.1096T > G, p.F366V and c.4517T > C, p.L1506p), none of which have been previously reported. All patients presented with recurrent infections, growth retardation, and myelodys-plasia, with varying degrees of involvement of multiple systems, including respiratory, gastrointestinal, immune, endocrine, neurological, and reproductive systems. In terms of treatment, two patients underwent regular intravenous immunoglobulin and their clinical symptoms improved, while one patient had a favorable recovery following hematopoietic stem cell transplantation at the age of 1 year and 5 months of age. SAMD9/SAMD9L gene mutations, therefore, chould be considered in children with recurrent infections, myelodysplasia, pancytopenia, and growth retardation. Early genetic testing is crucial for timely diagnosis and treatment, which may improve patient outcomes. |
| format | Article |
| id | doaj-art-a194de848813483b8803c1d548b7880b |
| institution | Kabale University |
| 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-a194de848813483b8803c1d548b7880b2025-01-08T05:21:58ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012024-10-013450751110.12376/j.issn.2097-0501.2024.04.014Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene MutationsZHU Ke0SUN Bijun1WANG Wenjie2ZHOU Qinhua3LIU Luyao4HOU Jia5WANG Xiaochuan6SUN Jinqiao7Department of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaMutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R; c.1096T > G, p.F366V and c.4517T > C, p.L1506p), none of which have been previously reported. All patients presented with recurrent infections, growth retardation, and myelodys-plasia, with varying degrees of involvement of multiple systems, including respiratory, gastrointestinal, immune, endocrine, neurological, and reproductive systems. In terms of treatment, two patients underwent regular intravenous immunoglobulin and their clinical symptoms improved, while one patient had a favorable recovery following hematopoietic stem cell transplantation at the age of 1 year and 5 months of age. SAMD9/SAMD9L gene mutations, therefore, chould be considered in children with recurrent infections, myelodysplasia, pancytopenia, and growth retardation. Early genetic testing is crucial for timely diagnosis and treatment, which may improve patient outcomes.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.014samd9 genesamd9l genemirage syndromeatxpc syndrome |
| spellingShingle | ZHU Ke SUN Bijun WANG Wenjie ZHOU Qinhua LIU Luyao HOU Jia WANG Xiaochuan SUN Jinqiao Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations 罕见病研究 samd9 gene samd9l gene mirage syndrome atxpc syndrome |
| title | Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations |
| title_full | Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations |
| title_fullStr | Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations |
| title_full_unstemmed | Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations |
| title_short | Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations |
| title_sort | clinical characteristics of three cases with samd9 samd9l gene mutations |
| topic | samd9 gene samd9l gene mirage syndrome atxpc syndrome |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.014 |
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