{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T10:56:05Z","timestamp":1773053765447,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T00:00:00Z","timestamp":1767139200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T00:00:00Z","timestamp":1767139200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100019345","name":"King Salman Center for Disability Research","doi-asserted-by":"publisher","award":["2180 004"],"award-info":[{"award-number":["2180 004"]}],"id":[{"id":"10.13039\/501100019345","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019345","name":"King Salman Center for Disability Research","doi-asserted-by":"publisher","award":["KSCDR\u2010ERC\u20102024\u201002"],"award-info":[{"award-number":["KSCDR\u2010ERC\u20102024\u201002"]}],"id":[{"id":"10.13039\/501100019345","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Hereditary sensory and autonomic neuropathy type IV (HSAN4) is a rare neurological disorder characterized by anhidrosis and congenital insensitivity to pain caused by biallelic pathogenic variants in\n                    <jats:italic>NTRK1.<\/jats:italic>\n                    The condition develops because of dorsal root and autonomic ganglion neurodegeneration, which ultimately results in reduced sensation and autonomic neurological dysfunction. We ascertained several neuropathic patients and performed genetic testing using gene panels and exome sequencing (ES). Genetic variants were confirmed by Sanger sequencing. Thirteen families, each with a single affected individual, participated in this study. Genetic testing revealed that all patients carried disease\u2010causing variants in\n                    <jats:italic>NTRK1<\/jats:italic>\n                    . We identified seven different variants within our cohort, including two novel variants (c.1922T&gt;C:p.Leu641Pro and c.1071_1072insTGCC:p.Asn358Cysfs*45). While some variants suggest a possible founder effect, the identification of new variants reflects the genetic diversity within the Saudi population. In addition to the cardinal clinical feature of HSAN4, patients exhibited various other symptoms like motor difficulties, microcephaly, recurrent hip dislocation, dystrophic nails, hypotrichosis, and various dysmorphic features. This study provides clinical information on a large number of patients, updates the prevalence and epidemiologic data in our population, and further expands the understanding of the disease's genetic and clinical spectrum within a highly consanguineous population.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70019","type":"journal-article","created":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T12:29:46Z","timestamp":1767184186000},"page":"871-878","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type\n                    <scp>IV<\/scp>\n                    in a Consanguineous Population: Identification of Novel\n                    <scp>\n                      <i>NTRK1<\/i>\n                    <\/scp>\n                    Variants and Expansion of Phenotypic Spectrum"],"prefix":"10.1002","volume":"200","author":[{"given":"Amal","family":"AlHashem","sequence":"first","affiliation":[{"name":"Department of Genetics and Metabolic King Fahad Specilist Hospital  Dammam Saudi Arabia"},{"name":"College of Medicine, Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanan","family":"AlQudairy","sequence":"additional","affiliation":[{"name":"Translational Genomics Department, MBC:26, Genomic Medicine Center of Excellence King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Raed","sequence":"additional","affiliation":[{"name":"College of Medicine, Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bashaer","family":"Al Bulushi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Emergency Medicine, King Fahad Medical City 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department (GPM) King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG\u2010HA)  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9427-7240","authenticated-orcid":false,"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[{"name":"Medical Genomic Research Department King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU\u2010HS), Ministry of National Guard Health Affairs (MNG\u2010HA)  Riyadh Saudi Arabia"},{"name":"Genetics and Precision Medicine department (GPM) King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG\u2010HA)  Riyadh Saudi Arabia"},{"name":"King Salman Center for Disability Research  Riyadh Saudi 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