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.

中文翻译：

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新生SAMD9L突变引起的共济失调症

共济失调全血细胞减少综合征（ATXPC; MIM 159550）是常染色体显性小脑共济失调，伴有血液学异常，包括全血细胞减少和血液系统恶性肿瘤（骨髓增生异常和急性髓细胞性白血病）。迄今为止，已经描述了具有ATXPC基础的功能SAMD9L突变的获得的4个家族。^1-4这里，我们描述了患有异型小脑综合征的骨髓增生异常患者中的从头SAMD9L致病变异。