{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T11:56:48Z","timestamp":1792238208516,"version":"4.4.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T00:00:00Z","timestamp":1618790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T00:00:00Z","timestamp":1618790400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Recently, biallelic variants in the\n                    <jats:italic>SORD<\/jats:italic>\n                    gene were identified as causal for axonal hereditary neuropathy (HN). We ascertained the spectrum and frequency of\n                    <jats:italic>SORD<\/jats:italic>\n                    variants among a large cohort of Czech patients with unknown cause of HN. Exome sequencing data were analysed for\n                    <jats:italic>SORD<\/jats:italic>\n                    (58 patients). The prevalent c.757del variant was tested with fragment analysis (931 patients). Sanger sequencing in additional 70 patients was done. PCR primers were designed to amplify the\n                    <jats:italic>SORD<\/jats:italic>\n                    gene with the exclusion of the pseudogene\n                    <jats:italic>SORD2P<\/jats:italic>\n                    . Sequence differences between gene and pseudogene were identified and frequencies of SNPs were calculated. Eighteen patients from 16 unrelated families with biallelic variants in the\n                    <jats:italic>SORD<\/jats:italic>\n                    gene were found and the c.757del was present in all patients on at least one allele. Three novel, probably pathogenic, variants were detected, always in a heterozygous state in combination with the c.757del on the second allele. Patients presented with a slowly progressive axonal HN. Almost all patients had moderate pes cavus deformity. SORD neuropathy is frequent in Czech patients and the third most common cause of autosomal recessive HN. The c.757del is highly prevalent. Specific amplification of the\n                    <jats:italic>SORD<\/jats:italic>\n                    gene with the exclusion of the pseudogene is essential for a precise molecular diagnostics.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-86857-0","type":"journal-article","created":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T06:10:06Z","timestamp":1618812606000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients"],"prefix":"10.1038","volume":"11","author":[{"given":"P.","family":"La\u0161\u0161uthov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Mazanec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Stan\u011bk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Sedl\u00e1\u010dkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Plevov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Haberlov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Seeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,19]]},"reference":[{"key":"86857_CR1","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4103\/0972-2327.53075","volume":"12","author":"MM Reilly","year":"2009","unstructured":"Reilly, M. M. Classification and diagnosis of the inherited neuropathies. Ann. Indian Acad. Neurol. 12, 80\u201388 (2009).","journal-title":"Ann. Indian Acad. Neurol."},{"key":"86857_CR2","doi-asserted-by":"publisher","first-page":"13","DOI":"10.3390\/genes5010013","volume":"5","author":"V Timmerman","year":"2014","unstructured":"Timmerman, V., Strickland, A. V. & Zuchner, S. Genetics of Charcot-Marie-tooth (CMT) disease within the frame of the human genome project success. Genes (Basel) 5, 13\u201332 (2014).","journal-title":"Genes (Basel)"},{"key":"86857_CR3","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1016\/j.ajhg.2020.08.018","volume":"107","author":"N Mendoza-Ferreira","year":"2020","unstructured":"Mendoza-Ferreira, N. et al. De Novo and inherited variants in GBF1 are associated with axonal neuropathy caused by golgi fragmentation. Am. J. Hum. Genet. 107, 763\u2013777 (2020).","journal-title":"Am. J. Hum. 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Mutations in a gene encoding a novel SH3\/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am. J. Hum. Genet. 73, 1106\u20131119 (2003).","journal-title":"Am. J. Hum. Genet."},{"key":"86857_CR7","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1007\/s11033-018-4470-7","volume":"46","author":"M Elmas","year":"2019","unstructured":"Elmas, M. et al. Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience. Mol. Biol. Rep. 46, 287\u2013299 (2019).","journal-title":"Mol. Biol. Rep."},{"key":"86857_CR8","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. 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Genetic and clinical features in 24 chinese distal hereditary motor neuropathy families. Front. Neurol. 11, 603003 (2020).","journal-title":"Front. 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