A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature
Abstract Background Mutations in the MECOM gene have been recognized as a causative factor in MECOM-associated syndrome, which encompasses a spectrum of hematologic and extra-hematologic manifestations. Hematologic features range from isolated thrombocytopenia to severe bone marrow failure, while ex...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-04-01
|
| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-025-05194-2 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849765463618224128 |
|---|---|
| author | Jiaxin Li Ting Peng Guoqiang Cheng Lin Yang Jianguo Zhou Rong Zhang Peng Zhang |
| author_facet | Jiaxin Li Ting Peng Guoqiang Cheng Lin Yang Jianguo Zhou Rong Zhang Peng Zhang |
| author_sort | Jiaxin Li |
| collection | DOAJ |
| description | Abstract Background Mutations in the MECOM gene have been recognized as a causative factor in MECOM-associated syndrome, which encompasses a spectrum of hematologic and extra-hematologic manifestations. Hematologic features range from isolated thrombocytopenia to severe bone marrow failure, while extra-hematologic manifestations may include skeletal, cardiac, renal, and other abnormalities. Here, we present a case of a Han Chinese newborn with a previously unreported variant in the MECOM gene. Case presentation We report a 0-day-old female Han Chinese neonate who presented with severe thrombocytopenia and intracranial hemorrhage, ultimately succumbing to multiple organ failure and intracranial hemorrhage on the third day after birth. Genetic sequencing identified a heterozygous frameshift variant, c.157_158del, within the MECOM gene. This variant led to a substitution of the 53rd amino acid from methionine to glycine, terminating at the 54th amino acid. A comprehensive review of literature indicated that MECOM gene mutations included missense (68.3%), deletion (8.5%), splice site (8.5%), frameshift (7.3%), and nonsense (7.3%) mutations. Patients with missense mutations frequently exhibited radioulnar synostosis, while bone marrow failure was more commonly associated with the other four types of mutations. Conclusion This study adds a novel variant of the MECOM gene to the current body of knowledge. In addition, we provide a comprehensive summary of previously reported cases. This case expands the phenotypic spectrum of MECOM variants and underscores the potential for rapid progression to a life-threatening condition. |
| format | Article |
| id | doaj-art-07e8a777317a46438fb07867848a1f4e |
| institution | DOAJ |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-07e8a777317a46438fb07867848a1f4e2025-08-20T03:04:50ZengBMCJournal of Medical Case Reports1752-19472025-04-011911610.1186/s13256-025-05194-2A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literatureJiaxin Li0Ting Peng1Guoqiang Cheng2Lin Yang3Jianguo Zhou4Rong Zhang5Peng Zhang6Neonatal Medical Center, Children’s Hospital of Fudan University, National Children’s Medical CenterNeonatal Medical Center, Children’s Hospital of Fudan University, National Children’s Medical CenterNeonatal Medical Center, Children’s Hospital of Fudan University, National Children’s Medical CenterDepartment of Pediatric Endocrinology and Inherited Metabolic Diseases, Children’s Hospital of Fudan University, National Children’s Medical CenterNeonatal Medical Center, Children’s Hospital of Fudan University, National Children’s Medical CenterNeonatal Medical Center, Children’s Hospital of Fudan University, National Children’s Medical CenterNeonatal Medical Center, Children’s Hospital of Fudan University, National Children’s Medical CenterAbstract Background Mutations in the MECOM gene have been recognized as a causative factor in MECOM-associated syndrome, which encompasses a spectrum of hematologic and extra-hematologic manifestations. Hematologic features range from isolated thrombocytopenia to severe bone marrow failure, while extra-hematologic manifestations may include skeletal, cardiac, renal, and other abnormalities. Here, we present a case of a Han Chinese newborn with a previously unreported variant in the MECOM gene. Case presentation We report a 0-day-old female Han Chinese neonate who presented with severe thrombocytopenia and intracranial hemorrhage, ultimately succumbing to multiple organ failure and intracranial hemorrhage on the third day after birth. Genetic sequencing identified a heterozygous frameshift variant, c.157_158del, within the MECOM gene. This variant led to a substitution of the 53rd amino acid from methionine to glycine, terminating at the 54th amino acid. A comprehensive review of literature indicated that MECOM gene mutations included missense (68.3%), deletion (8.5%), splice site (8.5%), frameshift (7.3%), and nonsense (7.3%) mutations. Patients with missense mutations frequently exhibited radioulnar synostosis, while bone marrow failure was more commonly associated with the other four types of mutations. Conclusion This study adds a novel variant of the MECOM gene to the current body of knowledge. In addition, we provide a comprehensive summary of previously reported cases. This case expands the phenotypic spectrum of MECOM variants and underscores the potential for rapid progression to a life-threatening condition.https://doi.org/10.1186/s13256-025-05194-2MECOM geneThrombocytopeniaGene variantRadioulnar synostosisCase report |
| spellingShingle | Jiaxin Li Ting Peng Guoqiang Cheng Lin Yang Jianguo Zhou Rong Zhang Peng Zhang A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature Journal of Medical Case Reports MECOM gene Thrombocytopenia Gene variant Radioulnar synostosis Case report |
| title | A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature |
| title_full | A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature |
| title_fullStr | A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature |
| title_full_unstemmed | A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature |
| title_short | A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature |
| title_sort | novel mecom gene variant causes severe thrombocytopenia in a neonate a case report and review of the literature |
| topic | MECOM gene Thrombocytopenia Gene variant Radioulnar synostosis Case report |
| url | https://doi.org/10.1186/s13256-025-05194-2 |
| work_keys_str_mv | AT jiaxinli anovelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT tingpeng anovelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT guoqiangcheng anovelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT linyang anovelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT jianguozhou anovelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT rongzhang anovelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT pengzhang anovelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT jiaxinli novelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT tingpeng novelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT guoqiangcheng novelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT linyang novelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT jianguozhou novelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT rongzhang novelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature AT pengzhang novelmecomgenevariantcausesseverethrombocytopeniainaneonateacasereportandreviewoftheliterature |