Ataxia-pancytopenia syndrome

Definition:

Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder, characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes associated with monosomy 7. It has been reported that ATXPC is caused by missense mutations in SAMD9L.

References:

[1]. Bianca Tesi, et al. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. Blood. 2017 Apr 20;129(16):2266-2279. [Content Brief]

[2]. Dong-Hui Chen, et al. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. [Content Brief]

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