The here identified SAMD9L germline variant p.(Arg986Cys) has already been described in association with ATXPC [6,7] as well as familial myelodysplastic syndrome [2,20] and in one isolated case with the clinical diagnosis of hereditary and sensory neuropathy due to demyelinating neuropathy as the initial clinical sign [9]. Here, SAMD9L is linked to sensory peripheral neuropathy.