{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:14:41Z","timestamp":1761718481726},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,5,17]],"date-time":"2016-05-17T00:00:00Z","timestamp":1463443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P27634FW"],"award-info":[{"award-number":["P27634FW"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["KU1587\/4\u20101"],"award-info":[{"award-number":["KU1587\/4\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec><jats:label \/><jats:p>Congenital insensitivity to pain and anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is characterized by recurrent episodes of unexplained high fever, loss of pain perception and temperature sensation, absent sweating, repeated traumatic and thermal injuries, and mild mental retardation. After exclusion of obviously pathogenic mutations in <jats:italic>NTRK1<\/jats:italic>, the most common cause of CIPA, whole exome sequencing (WES) was carried out in a CIPA patient with unrelated parents. No mutations in known HSAN genes were identified. However, filtering for genes carrying two rare sequence variations detected 13 homozygous single nucleotide variants (SNV), all being located on chromosome 1. Further analysis strongly suggested that this finding might be best explained by uniparental disomy of chromosome 1. Because <jats:italic>NTRK1<\/jats:italic> is also located on chromosome 1, we re\u2010evaluated WES data and detected a novel intronic sequence variation at position c.2188\u201012 C&gt;A, homozygously because of uniparental disomy. Subsequent analysis of <jats:italic>NTRK1<\/jats:italic> transcripts in peripheral blood cells of the patient revealed an influence of the variant on mRNA splicing. The C&gt;A transversion generated a novel splice\u2010site, which led to the incorporation of 10 intronic bases into the <jats:italic>NTRK1<\/jats:italic> mRNA and consequently to a non\u2010functional gene product. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32458","type":"journal-article","created":{"date-parts":[[2016,5,17]],"date-time":"2016-05-17T06:32:52Z","timestamp":1463466772000},"page":"875-878","source":"Crossref","is-referenced-by-count":10,"title":["Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic <i>NTRK1\u2010<\/i>mutation due to uniparental disomy"],"prefix":"10.1002","volume":"171","author":[{"given":"Ingo","family":"Kurth","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Jena University Hospital Jena Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Baumgartner","sequence":"additional","affiliation":[{"name":"Department of 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Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,5,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12064"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3308"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05413"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302050"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-485"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2767"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.4238\/2012.May.18.8"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051018"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000619)92:5<353::AID-AJMG12>3.0.CO;2-C"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1963.00460030083008"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1105-y"}],"container-title":["American 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