Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant.

Abstract

Variants in tumor suppressor genes and in genes encoding DNA repairing proteins are associated with syndromes conferring neurologic features and increased risk for malignancy. The best example for these conditions is ataxia-telangiectasia (AT). A more rare and recent disease is an ataxia-pancytopenia syndrome (ATXPC) associated with heterozygous gain-of-function variants in the tumor suppressor gene SAMD9L (MIM 159550). Here, we describe a patient with a complex cerebellar syndrome associated with a novel SAMD9L pathogenic variant. The authors are grateful to the patient for his kind participation and Cecilia Bungerfeldt for referring the patient and thank Mikael Altun for providing a HA-tagged pENTR4 vector. The authors also acknowledge the support from the Clinical Genomics Stockholm facility at Science for Life Laboratory in library preparation, sequencing, and subsequent bioinformatic analysis.