Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
| العنوان: | Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report |
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| المؤلفون: | Jun Guo, Jun Liu, Zhipeng Zhao, Ruolan Guo, Chanjuan Hao, Baoping Xu, Xuyun Hu, Wei Li |
| المصدر: | BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019) BMC Medical Genetics |
| بيانات النشر: | BMC, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, medicine.medical_specialty, lcsh:Internal medicine, Neutropenia, Majeed syndrome, Fever, lcsh:QH426-470, Anemia, Autosomal recessive, Case Report, Compound heterozygosity, Severity of Illness Index, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Genetics, medicine, Humans, lcsh:RC31-1245, Genetics (clinical), Anemia, Dyserythropoietic, Congenital, 030203 arthritis & rheumatology, medicine.diagnostic_test, business.industry, Osteomyelitis, Immunologic Deficiency Syndromes, Infant, Nuclear Proteins, medicine.disease, Dermatology, Pedigree, lcsh:Genetics, 030104 developmental biology, Erythrocyte sedimentation rate, Mutation, Female, business, Congenital dyserythropoietic anemia |
| الوصف: | Background Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome. Case presentation We report an 8-month-old boy, who presented with recurrent fever, mild to moderate anemia, and severe neutropenia. Erythrocyte sedimentation rate and C-reactive protein were elevated. Molecular testing identified a paternal splicing donor site variant c.2327 + 1G > C and a maternal frameshift variant c.1691_1694delGAGA (Arg564Lysfs*3) in LPIN2. Conclusions Only a few cases with LPIN2 mutation have been reported, mainly in the Middle East with homozygous variants. Our patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports. |
| اللغة: | English |
| تدمد: | 1471-2350 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b9450ba33e064b3b566c8826c451fdTest http://link.springer.com/article/10.1186/s12881-019-0919-3Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f6b9450ba33e064b3b566c8826c451fd |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14712350 |
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