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Hereditary sensory and autonomic neuropathies (HSAN) are a group of clinically and genetically heterogeneous disorders that are associated with sensory dysfunction. Among these, HSAN type 2 (HSAN2; MIM 201300) is a rare recessive disease that is characterized by an early age of onset with distal and proximal sensory loss, dysfunction of the autonomic nervous system, loss of the tendon reflex, the presence of various mutilations, and the slow progression of the disease over time. The authors report a Korean patient with the clinical features of HSAN2, who was compound heterozygous for two loss-of-function mutations in the HSN2 gene: c.217C &gt; T (Gln73X) and c.1134_1135insT (Asp379fsX1). The Gln73X mutation was a novel mutation while the Asp379fsX1 mutation has recently been reported in a Japanese patient with HSAN2. These results expanded the spectrum of mutations of the HSN2 gene by identifying a novel truncating mutation in a Korean patient and further support the hypothesis that HSN2 is a causative gene for HSAN2.

Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2