{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T00:44:11Z","timestamp":1768005851367,"version":"3.49.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["320030_212959"],"award-info":[{"award-number":["320030_212959"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Prix Claire et Selma Kattenburg"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    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\n                    <jats:italic>DST<\/jats:italic>\n                    variant in association with HSAN-VI in two Pakistani siblings.\n                  <\/jats:p>","DOI":"10.1038\/s41439-025-00330-2","type":"journal-article","created":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T07:16:21Z","timestamp":1763450181000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family"],"prefix":"10.1038","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5461-3599","authenticated-orcid":false,"given":"Asad","family":"Munir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen Nabiryo","family":"Frederiksen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fawad","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabawoon","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdur","family":"Rashid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey","family":"Oreshkov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kashif","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Shahzeb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inam","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9469-8689","authenticated-orcid":false,"given":"Hamid Ur","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mukhtar","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Ansar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5591-1835","authenticated-orcid":false,"given":"Atta Ur","family":"Rehman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,11,18]]},"reference":[{"key":"330_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.28.1.1","volume":"28","author":"JM Vance","year":"1991","unstructured":"Vance, J. M. Hereditary motor and sensory neuropathies. J. Med. Genet. 28, 1\u20135 (1991).","journal-title":"J. Med. Genet."},{"key":"330_CR2","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1385\/NMM:8:1-2:147","volume":"8","author":"M Auer-Grumbach","year":"2006","unstructured":"Auer-Grumbach, M., Mauko, B., Auer-Grumbach, P. & Pieber, T. R. Molecular genetics of hereditary sensory neuropathies. Neuromol. Med. 8, 147\u2013158 (2006).","journal-title":"Neuromol. Med."},{"key":"330_CR3","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1055\/s-2004-817722","volume":"23","author":"FB Axelrod","year":"2003","unstructured":"Axelrod, F. B. & Hilz, M. J. Inherited autonomic neuropathies. Semin. Neurol. 23, 381\u2013390 (2003).","journal-title":"Semin. Neurol."},{"key":"330_CR4","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1097\/00019052-200410000-00007","volume":"17","author":"H Houlden","year":"2004","unstructured":"Houlden, H., Blake, J. & Reilly, M. M. Hereditary sensory neuropathies. Curr. Opin. Neurol. 17, 569\u2013577 (2004).","journal-title":"Curr. Opin. Neurol."},{"key":"330_CR5","doi-asserted-by":"crossref","unstructured":"Ahmad, R., Zamani, M., Naeem, M. & Houlden, H. Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant. Neurol. Sci. (2025).","DOI":"10.1007\/s10072-025-08424-z"},{"key":"330_CR6","doi-asserted-by":"publisher","first-page":"e389","DOI":"10.1212\/NXG.0000000000000389","volume":"6","author":"A Lynch-Godrei","year":"2020","unstructured":"Lynch-Godrei, A. & Kothary, R. HSAN-VI: a spectrum disorder based on dystonin isoform expression. Neurol. Genet. 6, e389 (2020).","journal-title":"Neurol. Genet."},{"key":"330_CR7","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1016\/0888-7543(90)90261-R","volume":"8","author":"D Sawamura","year":"1990","unstructured":"Sawamura, D. et al. Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6. Genomics 8, 722\u2013726 (1990).","journal-title":"Genomics"},{"key":"330_CR8","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.semcdb.2017.07.016","volume":"69","author":"M Horie","year":"2017","unstructured":"Horie, M., Yoshioka, N. & Takebayashi, H. BPAG1 in muscles: structure and function in skeletal, cardiac and smooth muscle. Semin. Cell Dev. Biol. 69, 26\u201333 (2017).","journal-title":"Semin. Cell Dev. Biol."},{"key":"330_CR9","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1111\/cge.14397","volume":"104","author":"Y Capri","year":"2023","unstructured":"Capri, Y. et al. DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy. Clin. Genet. 104, 587\u2013592 (2023).","journal-title":"Clin. Genet."},{"key":"330_CR10","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-20584-4","volume":"12","author":"M Quinodoz","year":"2021","unstructured":"Quinodoz, M. et al. AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nat. Commun. 12, 518 (2021).","journal-title":"Nat. Commun."},{"key":"330_CR11","doi-asserted-by":"publisher","first-page":"2132","DOI":"10.1212\/WNL.0000000000003992","volume":"88","author":"F Manganelli","year":"2017","unstructured":"Manganelli, F. et al. Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology 88, 2132\u20132140 (2017).","journal-title":"Neurology"},{"key":"330_CR12","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1002\/ana.23524","volume":"71","author":"S Edvardson","year":"2012","unstructured":"Edvardson, S. et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann. Neurol. 71, 569\u2013572 (2012).","journal-title":"Ann. 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A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: case report and literature review. Am. J. Med. Genet. A 188, 1245\u20131250 (2022).","journal-title":"Am. J. Med. Genet. A"},{"key":"330_CR16","doi-asserted-by":"publisher","first-page":"492","DOI":"10.3389\/fgene.2020.00492","volume":"11","author":"JY Jin","year":"2020","unstructured":"Jin, J. Y. et al. Novel compound heterozygous DST variants causing hereditary sensory and autonomic neuropathies VI in twins of a Chinese family. Front. Genet. 11, 492 (2020).","journal-title":"Front. Genet."},{"key":"330_CR17","doi-asserted-by":"publisher","first-page":"2694","DOI":"10.1093\/hmg\/ddt663","volume":"23","author":"A Ferrier","year":"2014","unstructured":"Ferrier, A. et al. Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI. Hum. Mol. Genet. 23, 2694\u20132710 (2014).","journal-title":"Hum. Mol. 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Informed consent was obtained from all individuals for their participation in the study as well as for including their medical data in the publication.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"25"}}