{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:50:53Z","timestamp":1747198253941,"version":"3.40.5"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0766_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the <jats:italic>TOR1A<\/jats:italic> gene on chromosome 9q34. Congenital multiple joint contractures with microcephaly, typical facial dysmorphism, developmental delay, strabismus, tremor, and increased tone are the main characteristics defined in seven patients thus far. One third of the individuals with monoallelic mutations of the gene develop isolated early-onset dystonia (DYT1 dystonia), which is inherited in an autosomal dominant fashion, with variable expressivity and incomplete penetrance. We believe that different inheritance patterns of the same gene resulting in different phenotypes will provide an opportunity to understand other similar disease groups and different aspects of gene functions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0766_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We present a case with severe arthrogryposis multiplex congenita, respiratory failure, and feeding difficulties, with additional hitherto unreported symptoms, such as spontaneous bone fracture, sliding esophageal hernia, and uterine prolapse. The patient carried a novel homozygous variant (c.835delA, p.Lys275Asnfs*3) in the <jats:italic>TOR1A<\/jats:italic> gene (NM_000113.2).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0766_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We want to contribute to the phenotypic and genotypic spectra of this extremely rare disease.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0766","type":"journal-article","created":{"date-parts":[[2022,3,19]],"date-time":"2022-03-19T19:48:48Z","timestamp":1647719328000},"page":"845-850","source":"Crossref","is-referenced-by-count":1,"title":["A very rare cause of arthrogryposis multiplex congenita: a novel mutation in <i>TOR1A<\/i>"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7355-5408","authenticated-orcid":false,"given":"Emre","family":"Sar\u0131kaya","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , School of Medicine, Erciyes University , Kayseri , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u0131rat","family":"\u00d6z\u00e7elik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , School of Medicine, Erciyes University , Kayseri , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00dclk\u00fc","family":"G\u00fcl \u015eiraz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , School of Medicine, Erciyes University , Kayseri , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nihal","family":"Hatipoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , School of Medicine, Erciyes University , Kayseri , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamer","family":"G\u00fcne\u015f","sequence":"additional","affiliation":[{"name":"Department of Neonatology , School of Medicine, Erciyes University , Kayseri , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Munis","family":"D\u00fcndar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , School of Medicine, Erciyes University , Kayseri , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,3,16]]},"reference":[{"key":"2023033122444477133_j_jpem-2021-0766_ref_001","doi-asserted-by":"crossref","unstructured":"Lowry, RB, Sibbald, B, Bedard, T, Hall, JG. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol 2010;88:1057\u201361. https:\/\/doi.org\/10.1002\/bdra.20738.","DOI":"10.1002\/bdra.20738"},{"key":"2023033122444477133_j_jpem-2021-0766_ref_002","doi-asserted-by":"crossref","unstructured":"Laquerriere, A, Jaber, D, Abiusi, E, Maluenda, J, Mejlachowicz, D, Vivanti, A, et al.. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. J Med Genet 2021. https:\/\/doi.org\/10.1136\/jmedgenet-2020-107595.","DOI":"10.1136\/jmedgenet-2020-107595"},{"key":"2023033122444477133_j_jpem-2021-0766_ref_003","doi-asserted-by":"crossref","unstructured":"Hall, JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet 2014;57:464\u201372. https:\/\/doi.org\/10.1016\/j.ejmg.2014.03.008.","DOI":"10.1016\/j.ejmg.2014.03.008"},{"key":"2023033122444477133_j_jpem-2021-0766_ref_004","doi-asserted-by":"crossref","unstructured":"Kiefer, J, Hall, JG. Gene ontology analysis of arthrogryposis (multiple congenital contractures). Am J Med Genet C Semin Med Genet 2019;181:310\u201326. https:\/\/doi.org\/10.1002\/ajmg.c.31733.","DOI":"10.1002\/ajmg.c.31733"},{"key":"2023033122444477133_j_jpem-2021-0766_ref_005","unstructured":"Clark, R, Gold, J, Camacho, J, editors. Arthrogryposis associated with a homozygous frameshift variant in TOR1A: fetal-onset dystonia may cause severe congenital joint contractures. Vancouver, British Columbia, Canada: Annual Meeting of the American Society of Human Genetics; 2016."},{"key":"2023033122444477133_j_jpem-2021-0766_ref_006","doi-asserted-by":"crossref","unstructured":"Kariminejad, A, Dahl-Halvarsson, M, Ravenscroft, G, Afroozan, F, Keshavarz, E, Goullee, H, et al.. TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor. Brain 2017;140:2851\u20139. https:\/\/doi.org\/10.1093\/brain\/awx230.","DOI":"10.1093\/brain\/awx230"},{"key":"2023033122444477133_j_jpem-2021-0766_ref_007","doi-asserted-by":"crossref","unstructured":"Ozelius, LJ, Hewett, JW, Page, CE, Bressman, SB, Kramer, PL, Shalish, C, et al.. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40\u20138. https:\/\/doi.org\/10.1038\/ng0997-40.","DOI":"10.1038\/ng0997-40"},{"key":"2023033122444477133_j_jpem-2021-0766_ref_008","doi-asserted-by":"crossref","unstructured":"Isik, E, Aykut, A, Atik, T, Cogulu, O, Ozkinay, F. Biallelic TOR1A mutations cause severe arthrogryposis: a case requiring reverse phenotyping. Eur J Med Genet 2019;62:103544. https:\/\/doi.org\/10.1016\/j.ejmg.2018.09.011.","DOI":"10.1016\/j.ejmg.2018.09.011"},{"key":"2023033122444477133_j_jpem-2021-0766_ref_009","doi-asserted-by":"crossref","unstructured":"Reichert, SC, Gonzalez-Alegre, P, Scharer, GH. Biallelic TOR1A variants in an infant with severe arthrogryposis. Neurol Genet 2017;3:e154. https:\/\/doi.org\/10.1212\/nxg.0000000000000154.","DOI":"10.1212\/NXG.0000000000000154"},{"key":"2023033122444477133_j_jpem-2021-0766_ref_010","doi-asserted-by":"crossref","unstructured":"Torres, GE, Sweeney, AL, Beaulieu, JM, Shashidharan, P, Caron, MG. Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Proc Natl Acad Sci USA 2004;101:15650\u20135. https:\/\/doi.org\/10.1073\/pnas.0308088101.","DOI":"10.1073\/pnas.0308088101"},{"key":"2023033122444477133_j_jpem-2021-0766_ref_011","doi-asserted-by":"crossref","unstructured":"Goodchild, RE, Kim, CE, Dauer, WT. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 2005;48:923\u201332. https:\/\/doi.org\/10.1016\/j.neuron.2005.11.010.","DOI":"10.1016\/j.neuron.2005.11.010"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0766\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0766\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T12:13:01Z","timestamp":1680351181000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0766\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,16]]},"references-count":11,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,4,20]]},"published-print":{"date-parts":[[2022,6,27]]}},"alternative-id":["10.1515\/jpem-2021-0766"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0766","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2022,3,16]]}}}