{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:56:26Z","timestamp":1762001786949,"version":"3.37.3"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,8,31]],"date-time":"2017-08-31T00:00:00Z","timestamp":1504137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>Hereditary sensory and autonomic neuropathies (<jats:styled-content style=\"fixed-case\">HSAN<\/jats:styled-content>) type <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> are characterized by autosomal recessive inheritance, onset at birth and self\u2010mutilating behavior. Here, we described a new patient with congenital insensitivity to pain, sensory neuropathy, acromutilation, and spastic paraplegia. Whole\u2010exome sequencing showed a homozygous frameshift variant c.[577_580del], p.(<jats:styled-content style=\"fixed-case\">Lys193Phefs<\/jats:styled-content>*37) in <jats:italic><jats:styled-content style=\"fixed-case\">ARL6IP1<\/jats:styled-content><\/jats:italic>. The protein harbors reticulon\u2010like short hairpin transmembrane domains and has a role in endoplasmic reticulum shaping. The variant causes an additional C\u2010terminus hydrophobic domain which could disrupt its function. <jats:styled-content style=\"fixed-case\">ARL6IP1<\/jats:styled-content> interacts with atlastin\u20101 responsible for <jats:styled-content style=\"fixed-case\">SPG3A<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">HSAN<\/jats:styled-content> type <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>. This report highlights the role of <jats:italic><jats:styled-content style=\"fixed-case\">ARL6IP1<\/jats:styled-content><\/jats:italic> in the pathophysiology of insensitivity to pain and spastic paraplegia.<\/jats:p>","DOI":"10.1111\/cge.13048","type":"journal-article","created":{"date-parts":[[2017,5,4]],"date-time":"2017-05-04T09:17:12Z","timestamp":1493889432000},"page":"169-172","source":"Crossref","is-referenced-by-count":26,"title":["<i><scp>ARL6IP1<\/scp><\/i> mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2170-4210","authenticated-orcid":false,"given":"M.","family":"Nizon","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nantes  Nantes 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