# A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family **Authors:** Asad Munir, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah, Abdur Rashid, Sergey Oreshkov, Kashif Khan, Muhammad Shahzeb, Inam Ullah, Hamid Ur Rahman, Mukhtar Ullah, Muhammad Ansar, Atta Ur Rehman PMC · DOI: 10.1038/s41439-025-00330-2 · 2025-11-18 ## TL;DR A new genetic mutation in the DST gene is linked to a rare neurological disorder in two siblings from a Pakistani family. ## Contribution Identifies a novel homozygous DST variant as a cause of hereditary sensory and autonomic neuropathy type 6. ## Key findings - A homozygous DST variant was found in two affected siblings with HSAN-VI. - The DST mutation is associated with the clinical features of HSAN-VI in this family. ## Abstract 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. ## Linked entities - **Genes:** DST (dystonin) [NCBI Gene 667] - **Diseases:** hereditary sensory and autonomic neuropathy type 6 (MONDO:0013839) ## Full-text entities - **Genes:** DST (dystonin) [NCBI Gene 667] {aka BP240, BPA, BPAG1, CATX-15, CATX15, CMYO29} - **Diseases:** Hereditary sensory and autonomic neuropathy type 6 (MESH:D009477), autosomal recessive neurological disorder (MESH:D020271), autonomic abnormalities (MESH:D009461), hypotonia (MESH:D009123), HSAN-VI (OMIM:614653), impaired motor development (MESH:D002658) ## Figures 1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12627412/full.md --- Source: https://tomesphere.com/paper/PMC12627412