A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant

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dc.authorscopusid57200495844
dc.authorscopusid25029172000
dc.authorscopusid24773951700
dc.authorscopusid16038685000
dc.authorscopusid57209617975
dc.authorscopusid32867707600
dc.authorscopusid7102264794
dc.contributor.authorDeliloğlu B.
dc.contributor.authorTüfekçi Ö.
dc.contributor.authorTüzün F.
dc.contributor.authorAykut A.
dc.contributor.authorCeylan E.İ.
dc.contributor.authorDurmaz A.
dc.contributor.authorYılmaz Ş.
dc.date.accessioned2023-01-12T20:26:05Z
dc.date.available2023-01-12T20:26:05Z
dc.date.issued2022
dc.departmentN/A/Departmenten_US
dc.description.abstractBackground. 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.en_US
dc.identifier.doi10.24953/turkjped.2021.4855
dc.identifier.endpage740en_US
dc.identifier.issn0041-4301
dc.identifier.issue4en_US
dc.identifier.pmid36082647en_US
dc.identifier.scopus2-s2.0-85137481905en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage736en_US
dc.identifier.trdizinid1139132en_US
dc.identifier.urihttps://doi.org/10.24953/turkjped.2021.4855
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1139132
dc.identifier.urihttps://hdl.handle.net/11454/79867
dc.identifier.volume64en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish National Pediatric Societyen_US
dc.relation.ispartofTurkish Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectcongenital amegakaryocytic thrombocytopeniaen_US
dc.subjectMECOM geneen_US
dc.subjectneonateen_US
dc.subjecthemoglobinen_US
dc.subjectMDS1 and EVI1 complex locus proteinen_US
dc.subjectMECOM protein, humanen_US
dc.subjecttranscription factoren_US
dc.subjectApgar scoreen_US
dc.subjectArticleen_US
dc.subjectblood cell counten_US
dc.subjectblood clotting testen_US
dc.subjectbone marrow transplantationen_US
dc.subjectcase reporten_US
dc.subjectcesarean sectionen_US
dc.subjectclinical articleen_US
dc.subjectcomputed tomographic angiographyen_US
dc.subjectcomputer assisted tomographyen_US
dc.subjectcongenital amegakaryocytic thrombocytopeniaen_US
dc.subjectdifferential diagnosisen_US
dc.subjectdisseminated intravascular clottingen_US
dc.subjectecchymosisen_US
dc.subjectechocardiographyen_US
dc.subjecterythrocyte sedimentation rateen_US
dc.subjecterythroid precursor cellen_US
dc.subjectfetus hypoxiaen_US
dc.subjectflow cytometryen_US
dc.subjectfollow upen_US
dc.subjectgene mutationen_US
dc.subjectgestational ageen_US
dc.subjecthematopoietic stem cell transplantationen_US
dc.subjecthumanen_US
dc.subjecthyperpigmentationen_US
dc.subjectimmunosuppressive treatmenten_US
dc.subjectinfanten_US
dc.subjectkaryotype 46,XYen_US
dc.subjectlaboratory testen_US
dc.subjectleukopeniaen_US
dc.subjectlung hemorrhageen_US
dc.subjectlung malformationen_US
dc.subjectmaleen_US
dc.subjectneutrophil counten_US
dc.subjectophthalmologyen_US
dc.subjectpancytopeniaen_US
dc.subjectphagocytosisen_US
dc.subjectplatelet counten_US
dc.subjectprematurityen_US
dc.subjectrashen_US
dc.subjectresuscitationen_US
dc.subjectSanger sequencingen_US
dc.subjectthorax radiographyen_US
dc.subjectvirus infectionen_US
dc.subjectwhole exome sequencingen_US
dc.subjectgeneticsen_US
dc.subjectmutationen_US
dc.subjectnewbornen_US
dc.subjectprematurityen_US
dc.subjectthrombocytopeniaen_US
dc.subjectCongenital Bone Marrow Failure Syndromesen_US
dc.subjectHumansen_US
dc.subjectInfanten_US
dc.subjectInfant, Newbornen_US
dc.subjectInfant, Prematureen_US
dc.subjectMaleen_US
dc.subjectMDS1 and EVI1 Complex Locus Proteinen_US
dc.subjectMutationen_US
dc.subjectThrombocytopeniaen_US
dc.subjectTranscription Factorsen_US
dc.titleA novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infanten_US
dc.typeArticleen_US

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