A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.

Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired motor development and autonomic abnormalities with highly variable age of onset and severity. Here we report a novel homozygous DST variant in association with HSAN-VI in two Pakistani siblings.