Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation

Ataxia pancytopenia syndrome (ATXPC; MIM 159550) is an autosomal dominant cerebellar ataxia associated with hematological abnormalities including pancytopenia and a predisposition to haematological malignancy (myelodysplasia and acute myeloid leukaemia). To date, 4 families have been described harboring gain of function SAMD9L mutations which underlie ATXPC.1–4 Here we describe a de novo SAMD9L pathogenic variant in a patient with myelodysplasia, presenting with a subacute cerebellar syndrome.

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