BabyScreen+ newborn screening

Gene: MYSM1

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bone marrow failure syndrome 4, MIM#618116

Green List (high evidence)

Gene-disease association: strong. BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative.

Severity: severe

Age of onset: infant

Non-molecular confirmatory testing: yes, WBC and RBC counts. immunoglobulin level, T and B Lymphocyte and Natural Killer Cell Profile

Treatment: Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant

Created: 4 Oct 2022, 5:22 a.m. | Last Modified: 4 Oct 2022, 5:22 a.m.

Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bone marrow failure syndrome 4