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. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. Josh King-Robson's research is funded by the National Institute for Health Research (NIHR). The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care.