Work

A Family With Mysm1 Mutation

Year: 2025

Type: article

Abstract: 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.

Source: EJC Paediatric Oncology

DOI: 10.1016/j.ejcped.2025.100367

Authors: Deniz Karapinar, Nihal Karadas, Ayami Yoshimi, Charlotte Niemeyer, Miriam Erlacher, Deniz Yilmaz Karapinar

Institutions: Ege University, University of Freiburg, University Medical Center Freiburg, University Hospital Ulm

Language: English

Topic: Blood disorders and treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,340