A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report
Abstract Background Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. Case presentation...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-12-01
|
| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12887-017-0968-8 |
| _version_ | 1811339405251575808 |
|---|---|
| author | Shuaimei Liu Mingchao Zhang Mengxia Ni Peiran Zhu Xinyi Xia |
| author_facet | Shuaimei Liu Mingchao Zhang Mengxia Ni Peiran Zhu Xinyi Xia |
| author_sort | Shuaimei Liu |
| collection | DOAJ |
| description | Abstract Background Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. Case presentation The case presented here is that of a 6-year-old boy who was born at 33 weeks to healthy, non-consanguineous Chinese parents. He presented with short stature (95 cm; <3rd percentile) and proteinuria. Initially suspected of having IgM nephropathy, the patient was finally diagnosed with mild Schimke immune-osseous dysplasia. One novel mutation (p.R817H) and one well-known mutation (p.R645C) was identified in the SMARCAL1 gene. Conclusion This report describes a clinical and genetic diagnostic model of mild SIOD. It also highlights the importance of molecular testing or clinical diagnosis and the guidance it provides in disease prognosis. |
| first_indexed | 2024-04-13T18:25:15Z |
| format | Article |
| id | doaj.art-f1c77dfd6a974c339a2afe5db027f3e0 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-13T18:25:15Z |
| publishDate | 2017-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-f1c77dfd6a974c339a2afe5db027f3e02022-12-22T02:35:16ZengBMCBMC Pediatrics1471-24312017-12-011711610.1186/s12887-017-0968-8A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case reportShuaimei Liu0Mingchao Zhang1Mengxia Ni2Peiran Zhu3Xinyi Xia4Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of MedicineNational Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of MedicineDepartment of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of MedicineDepartment of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of MedicineDepartment of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of MedicineAbstract Background Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. Case presentation The case presented here is that of a 6-year-old boy who was born at 33 weeks to healthy, non-consanguineous Chinese parents. He presented with short stature (95 cm; <3rd percentile) and proteinuria. Initially suspected of having IgM nephropathy, the patient was finally diagnosed with mild Schimke immune-osseous dysplasia. One novel mutation (p.R817H) and one well-known mutation (p.R645C) was identified in the SMARCAL1 gene. Conclusion This report describes a clinical and genetic diagnostic model of mild SIOD. It also highlights the importance of molecular testing or clinical diagnosis and the guidance it provides in disease prognosis.http://link.springer.com/article/10.1186/s12887-017-0968-8Schimke immune-osseous dysplasiaSMARCAL1Next generation sequencingMutation analysis |
| spellingShingle | Shuaimei Liu Mingchao Zhang Mengxia Ni Peiran Zhu Xinyi Xia A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report BMC Pediatrics Schimke immune-osseous dysplasia SMARCAL1 Next generation sequencing Mutation analysis |
| title | A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report |
| title_full | A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report |
| title_fullStr | A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report |
| title_full_unstemmed | A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report |
| title_short | A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report |
| title_sort | novel compound heterozygous mutation of the smarcal1 gene leading to mild schimke immune osseous dysplasia a case report |
| topic | Schimke immune-osseous dysplasia SMARCAL1 Next generation sequencing Mutation analysis |
| url | http://link.springer.com/article/10.1186/s12887-017-0968-8 |
| work_keys_str_mv | AT shuaimeiliu anovelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport AT mingchaozhang anovelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport AT mengxiani anovelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport AT peiranzhu anovelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport AT xinyixia anovelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport AT shuaimeiliu novelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport AT mingchaozhang novelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport AT mengxiani novelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport AT peiranzhu novelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport AT xinyixia novelcompoundheterozygousmutationofthesmarcal1geneleadingtomildschimkeimmuneosseousdysplasiaacasereport |