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Hereditary sensory and autonomic neuropathy (HSAN) type VI is a rare autosomal recessive disorder due to mutations affecting the a2 isoform. We present a case of HSAN\u2010VI in a male neonate born to consanguineous parents. Genome sequencing revealed a novel homozygous variant (DST_c.1118C\u2009&gt;\u2009T; p.Pro373Leu) inherited from both parents. This case further expands the phenotype and genotype of this rare syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62609","type":"journal-article","created":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T12:40:55Z","timestamp":1639399255000},"page":"1245-1250","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type <scp>VI<\/scp> in a male infant: Case report and literature review"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3741-2506","authenticated-orcid":false,"given":"Rishika P.","family":"Sakaria","sequence":"first","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics University of Tennessee Health Science Center  Memphis Tennessee USA"},{"name":"Department of Pediatrics Le Bonheur Children's Hospital  Memphis Tennessee 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