A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant
| Autor: | Burak Deliloğlu, Özlem Tüfekçi, Funda Tüzün, Ayça Aykut, Emine İpek Ceylan, Asude Durmaz, Şebnem Yılmaz, Nuray Duman, Hasan Özkan, Hale Ören |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Male
Sanger sequencing resuscitation thrombocytopenia rash whole exome sequencing computer assisted tomography newborn differential diagnosis virus infection echocardiography Congenital Bone Marrow Failure Syndromes MECOM protein human genetics gene mutation gestational age transcription factor thorax radiography clinical article disseminated intravascular clotting blood clotting test phagocytosis immunosuppressive treatment laboratory test hematopoietic stem cell transplantation MDS1 and EVI1 complex locus protein Infant Premature MECOM gene bone marrow transplantation erythroid precursor cell Article pancytopenia fetus hypoxia case report follow up Humans ecchymosis Apgar score human computed tomographic angiography cesarean section flow cytometry leukopenia neutrophil count prematurity lung malformation Infant Newborn Infant hemoglobin platelet count congenital amegakaryocytic thrombocytopenia lung hemorrhage ophthalmology Pediatrics Perinatology and Child Health Mutation hyperpigmentation erythrocyte sedimentation rate neonate blood cell count karyotype 46 XY Transcription Factors |
| Popis: | Background. Hereditary bone marrow failure syndromes are a category of biologically different syndromes that can cause cytopenia in at least one hematopoietic cell lineage. Case. We present a 29-week-old male infant who had a low Apgar Score, advanced delivery room resuscitation, widespread petechial rash, and ecchymoses at birth, without any dysmorphic features. Initial laboratory tests revealed bicytopenia (platelet count 7x10 3 /uL, hemoglobin of 3.9 g/dL, neutrophil 2.0x103 /uL) with findings of disseminated intravasculer coagulation (DIC). Imaging studies demonstrated accompanying left-sided congenital pulmonary airway malformation. On the second postnatal week pancytopenia occurred and the bone marrow findings were consistent with congenital amegakaryocytic thrombocytopenia. Further evaluations for differential diagnosis of pancitopenia were performed and the results of congenital viral infections, metabolic and immunologic tests were negative. While supportive treatments were in progress, haploidentical bone marrow transplantation (BMT) was performed from the father at 84th day due to unavailability of HLA-matched relative or nonrelative donor. Whole exome sequencing revealed a novel heterozygous frameshift variation (c.1242dupT [p. Thr538fs]) in exon 8 of the MECOM gene and validated by Sanger sequencing. No variation was detected in the parents genetic analysis. Conclusions. In this report, we present a patient with congenital bone marrow failure successfully treated with haploidentic BMT and describe a novel, de novo pathogenic variant in MECOM gene. © 2022, Turkish National Pediatric Society. All rights reserved. |
| Databáze: | OpenAIRE |
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