دورية أكاديمية
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
| العنوان: | Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes. |
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| المؤلفون: | Lozano Chinga MM; Primary Children's Hospital, University of Utah, Salt Lake City, Utah, USA.; University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Bertuch AA; Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA., Afify Z; Primary Children's Hospital, University of Utah, Salt Lake City, Utah, USA., Dollerschell K; Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Hsu JI; Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA., John TD; Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA., Rao ES; Johns Hopkins Hospital, Baltimore, Maryland, USA., Rowe RG; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts, USA., Sankaran VG; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts, USA., Shimamura A; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts, USA., Williams DA; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts, USA., Nakano TA; Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1826-1835. Date of Electronic Publication: 2023 Apr 17. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Bone Marrow Diseases*/diagnosis , Bone Marrow Diseases*/genetics , Pancytopenia* , Hematologic Diseases*, Humans ; Syndrome ; Bone Marrow Failure Disorders ; Transcription Factors/genetics ; Phenotype ; MDS1 and EVI1 Complex Locus Protein/genetics |
| مستخلص: | The MECOM gene encodes multiple protein isoforms that are essential for hematopoietic stem cell self-renewal and maintenance. Germline MECOM variants have been associated with congenital thrombocytopenia, radioulnar synostosis and bone marrow failure; however, the phenotypic spectrum of MECOM-associated syndromes continues to expand and novel pathogenic variants continue to be identified. We describe eight unrelated patients who add to the previously known phenotypes and genetic defects of MECOM-associated syndromes. As each subject presented with unique MECOM variants, the series failed to demonstrate clear genotype-to-phenotype correlation but may suggest a role for additional modifiers that affect gene expression and subsequent phenotype. Recognition of the expanded hematologic and non-hematologic clinical features allows for rapid molecular diagnosis, early identification of life-threatening complications, and improved genetic counseling for families. A centralized international publicly accessible database to share annotated MECOM variants would advance their clinical interpretation and provide a foundation to perform functional MECOM studies. (© 2023 Wiley Periodicals LLC.) |
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| معلومات مُعتمدة: | RC2 DK122533 United States DK NIDDK NIH HHS; T32 HL007574 United States HL NHLBI NIH HHS |
| فهرسة مساهمة: | Keywords: MECOM; aplastic anemia; bone marrow failure; inherited bone marrow failure syndrome; radioulnar synostosis; thrombocytopenia |
| المشرفين على المادة: | 0 (Transcription Factors) 0 (MECOM protein, human) 0 (MDS1 and EVI1 Complex Locus Protein) |
| تواريخ الأحداث: | Date Created: 20230417 Date Completed: 20230608 Latest Revision: 20240702 |
| رمز التحديث: | 20240702 |
| مُعرف محوري في PubMed: | PMC10330190 |
| DOI: | 10.1002/ajmg.a.63208 |
| PMID: | 37067177 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63208 |