{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T10:06:51Z","timestamp":1782986811523,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"CAMS Innovation Fund for Medical Sciences","award":["2016-I2M-3-003"],"award-info":[{"award-number":["2016-I2M-3-003"]}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC0905100"],"award-info":[{"award-number":["2016YFC0905100"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFE0128400"],"award-info":[{"award-number":["2016YFE0128400"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically and genetically heterogeneous neurological disorders characterized by sensory dysfunctions. Here, 21 affected Chinese families are reported, including 19 with congenital insensitivity to pain with anhidrosis (CIPA; namely HSAN IV) and two with congenital insensitivity to pain (CIP; namely HSAN IID) caused by biallelic variations in <jats:italic>NTRK1<\/jats:italic> and <jats:italic>SCN9A<\/jats:italic>, respectively, aiming to identify causative variants in these families and compare how different variants in <jats:italic>NTRK1<\/jats:italic> affect the function of tropomyosin receptor kinase A (TrkA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Recombinant plasmids harboring the wild\u2010type and six mutant alleles (p.Gln216*, p.Glu584Lys, p.Leu595Arg, p.Pro684Leu, p.Val709Leu and p.Arg765Cys) of <jats:italic>NTRK1<\/jats:italic> cDNA were constructed and transfected into HEK293 cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The results suggested that the five missense variants only presented a subtle influence on the expression level and glycosylation of TrkA but compromised the receptor phosphorylation. Our findings also suggested that a synonymous variant c.219C&gt;T in <jats:italic>NTRK1<\/jats:italic> may cause aberrant splicing, indicating a potential novel pathogenic mechanism of CIPA. Furthermore, gross deletion of <jats:italic>SCN9A<\/jats:italic> was first associated with CIP.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study identified multiple forms of variants responsible for CIPA\/CIP in the Chinese population and might provide new insights into the pathogenesis of CIPA.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14234","type":"journal-article","created":{"date-parts":[[2020,3,27]],"date-time":"2020-03-27T08:40:52Z","timestamp":1585298452000},"page":"1697-1705","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2677-1631","authenticated-orcid":false,"given":"F.","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Medical Genetics 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