SAMD9L-Related Ataxia-Pancytopenia Syndrome is a rare genetic disorder with prominent neurological and hematological manifestations.
Chromosome location: 7q21.2
Gene: SAMD9L (sterile alpha motif domain containing 9 like)
Functions: tumor suppressor; role in cell proliferation; role in innate immune response
Inheritance: autosomal dominant
Clinical features:
(1) cerebellar ataxia and cerebellar atrophy
(2) hematologic cytopenias (anemia, leukopenia and/or thrombocytopenia)
(3) risk for early-onset myelodysplasia, acute myeloid leukemia (AML) and juvenile myelomonocytic leukemia
(4) nystagmus
(5) neurological abnormalities (dysmetria, increased deep tendon reflexes, clonus)
(6) progressive gait impairment and uncoordination
Patients may show partial or complete monosomy 7.
