{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:31:57Z","timestamp":1740173517547,"version":"3.37.3"},"reference-count":9,"publisher":"Endocrinology Research Centre","issue":"3","license":[{"start":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T00:00:00Z","timestamp":1698019200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p>Growth retardation for more than 2 SD below the average population or presumed familial target height is classified as a\u00a0short stature and may be a clinical manifestation of a large number of disorders. The use of the latest methods of molecular genetic analysis in recent years has allowed for a better understanding of the pathogenesis of inherited forms of a short stature. One of the recently discovered mechanisms of this pathology was monoallelic mutations in\u00a0<jats:italic>RPL13<\/jats:italic>\u00a0gene, leading to the\u00a0development of Isidor-Toutain type spondyloepimetaphyseal dysplasia (SEDM).<jats:italic>\u00a0<\/jats:italic>Characteristic phenotypic features for this form are normal birth length, early postnatal growth deficiency, platyspondyly, proximal femoral epiphyseal changes, coxa vara, genu varum. This study presents the clinical and radiological characteristics of the first patient in the Russian \u00adFederation with SEMD caused by a mutation in\u00a0<jats:italic>RPL13<\/jats:italic>\u00a0gene.<\/jats:p>","DOI":"10.14341\/probl13377","type":"journal-article","created":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T15:09:14Z","timestamp":1721056154000},"page":"93-97","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["Syndromic growth retardation caused by impaired function of the ribosomal protein eL13"],"prefix":"10.14341","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0412-7140","authenticated-orcid":true,"given":"N. A.","family":"Makretskaya","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8520-2378","authenticated-orcid":true,"given":"I. G.","family":"Vorontsova","sequence":"additional","affiliation":[{"name":"Russian Children\u2019s Clinical Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7894-9222","authenticated-orcid":true,"given":"A. A.","family":"Buianova","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1343-2550","authenticated-orcid":true,"given":"D. O.","family":"Korostin","sequence":"additional","affiliation":[{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8520-2378","authenticated-orcid":true,"given":"E. E.","family":"Petryaykina","sequence":"additional","affiliation":[{"name":"Russian Children\u2019s Clinical Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8500-4841","authenticated-orcid":true,"given":"A. N.","family":"Tiulpakov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics; Russian Children\u2019s Clinical Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5458","published-online":{"date-parts":[[2023,10,23]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Grunauer M, Jorge AAL. Genetic short stature. Growth Horm IGF Res. 2018;38:29-33. doi: https:\/\/doi.org\/10.1016\/j.ghir.2017.12.003","DOI":"10.1016\/j.ghir.2017.12.003"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Isidor B, Geffroy L, de Courtivron B, et al. A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. Am J Med Genet A. 2013;161A(10):2645-51. doi: https:\/\/doi.org\/10.1002\/ajmg.a.36132","DOI":"10.1002\/ajmg.a.36132"},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"Le Caignec C, Ory B, Lamoureux F, et al. RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. Am J Hum Genet. 2019;105(5):1040-1047. doi: https:\/\/doi.org\/10.1016\/j.ajhg.2019.09.024","DOI":"10.1016\/j.ajhg.2019.09.024"},{"key":"ref4","doi-asserted-by":"crossref","unstructured":"D\u00edaz-Gonz\u00e1lez F, Parr\u00f3n-Pajares M, Lucas-Castro E, et al. Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases. Clin Genet. 2023;104(1):100-106. doi: https:\/\/doi.org\/10.1111\/cge.14351","DOI":"10.1111\/cge.14351"},{"key":"ref5","doi-asserted-by":"crossref","unstructured":"Costantini A, Alm JJ, Tonelli F, et al. Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia. J Bone Miner Res. 2021;36(2):283-297. doi: https:\/\/doi.org\/10.1002\/jbmr.4177","DOI":"10.1002\/jbmr.4177"},{"key":"ref6","doi-asserted-by":"crossref","unstructured":"Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010:38:e164. doi: https:\/\/doi.org\/10.1093\/nar\/gkq603","DOI":"10.1093\/nar\/gkq603"},{"key":"ref7","doi-asserted-by":"crossref","unstructured":"Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24. doi: https:\/\/doi.org\/10.1038\/gim.2015.30","DOI":"10.1038\/gim.2015.30"},{"key":"ref8","doi-asserted-by":"crossref","unstructured":"Ryzhkova OP, Kardymon OL, Prohorchuk EB, Konovalov FA, et al. Medical Genetics. 2019;18(2):3-23. (In Russ.) doi: https:\/\/doi.org\/10.25557\/2073-7998.2019.02.3-23","DOI":"10.25557\/2073-7998.2019.02.3-23"},{"key":"ref9","doi-asserted-by":"crossref","unstructured":"Kenmochi N, Kawaguchi T, Rozen S, et al. A map of 75 human ribosomal protein genes. Genome Res. 1998;8(5):509-23. doi: https:\/\/doi.org\/10.1101\/gr.8.5.509","DOI":"10.1101\/gr.8.5.509"}],"container-title":["Problems of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/viewFile\/13377\/10682","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T10:11:44Z","timestamp":1721124704000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/view\/13377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,23]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,7,14]]}},"URL":"https:\/\/doi.org\/10.14341\/probl13377","relation":{},"ISSN":["2308-1430","0375-9660"],"issn-type":[{"type":"electronic","value":"2308-1430"},{"type":"print","value":"0375-9660"}],"subject":[],"published":{"date-parts":[[2023,10,23]]}}}