A FAMILY WITH MYSM1 MUTATION
Background and Aims: Autosomal recessive mutations in MYSM1 cause a rare inherited bone marrow failure syndrome. Here we describe two siblings harboring a homozygous MYSM1 mutation. Case 1: The 13 months old girl presented with minor neurodevelopmental delay. Her history and physical examination were normal except for signs of anemia. Laboratory investigations revealed Hgb: 3.6 g/dL, MCV: 106 fL, platelet count: 100.000/mm3, WBC: 3890/mm3, ANC: 1130/mm3, reticulocytes: 2.5%, and HbF: 9.2%. Bone marrow was hypocellular with minimal dysplasia.
Authors
- Miriam Erlacher (ORCID: https://orcid.org/0000-0002-7261-1447)
- Ayami Yoshimi (ORCID: https://orcid.org/0000-0003-1593-9507)
- Nihal Karadaş (ORCID: https://orcid.org/0000-0002-0019-7347)
- Deniz Yılmaz Karapınar (ORCID: https://orcid.org/0000-0002-1637-4678)
- Charlotte M. Niemeyer (ORCID: https://orcid.org/0000-0003-3856-7937)
Institutions
- University Medical Center Freiburg (DE)
- Ege University (TR)
- University Hospital Ulm (DE)
Publication Details
- Journal
- EJC Paediatric Oncology
- Published
- 2025-11-05
- DOI
- https://doi.org/10.1016/j.ejcped.2025.100367
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00