{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T05:45:40Z","timestamp":1780465540866,"version":"3.54.1"},"reference-count":30,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,9,29]],"date-time":"2021-09-29T00:00:00Z","timestamp":1632873600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic short stature (ISS). One of the leading genetic causes of short stature is variants of short stature homeobox-containing gene (SHOX) and is considered to be responsible for 2\u201315% of ISS. We aimed to analyse the regulatory and coding region of SHOX in Slovenian children and young adults with ISS and to investigate the pathogenicity of detected variants. Our cohort included 75 children and young adults with ISS. Multiplex ligation-dependent probe amplification (MLPA) was performed in all participants for the detection of larger copy number variations (CNVs). Sanger sequencing was undertaken for the detection of point variants, small deletions, and insertions. A total of one deletion and two duplications were discovered using the MLPA technique. Only one of these four variants was identified as disease-causing and occurred in one individual, which represents 1.3% of the cohort. With Sanger sequencing, two variants were discovered, but none of them appeared to have a pathogenic effect on height. According to the results, in the Slovenian population of children and young adults with ISS, SHOX deficiency is less frequent than expected considering existing data from other populations.<\/jats:p>","DOI":"10.3390\/genes12101546","type":"journal-article","created":{"date-parts":[[2021,9,29]],"date-time":"2021-09-29T08:27:44Z","timestamp":1632904064000},"page":"1546","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Detection of Del\/Dup Inside SHOX\/PAR1 Region in Children and Young Adults with Idiopathic Short Stature"],"prefix":"10.3390","volume":"12","author":[{"given":"Jera","family":"Stritar","sequence":"first","affiliation":[{"name":"Clinical Institute of Special Laboratory Diagnostics, University Children\u2019s Hospital, UMC, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lana","family":"Stavber","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, UMC, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Ficko","sequence":"additional","affiliation":[{"name":"Clinical Institute of Special Laboratory Diagnostics, University Children\u2019s Hospital, UMC, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Primo\u017e","family":"Kotnik","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, UMC, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadej","family":"Battelino","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, UMC, 1000 Ljubljana, Slovenia"},{"name":"Department of Pediatrics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0154-3547","authenticated-orcid":false,"given":"Katarina","family":"Trebu\u0161ak Podkraj\u0161ek","sequence":"additional","affiliation":[{"name":"Clinical Institute of Special Laboratory Diagnostics, University Children\u2019s Hospital, UMC, 1000 Ljubljana, Slovenia"},{"name":"Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tinka","family":"Hovnik","sequence":"additional","affiliation":[{"name":"Clinical Institute of Special Laboratory Diagnostics, University Children\u2019s Hospital, UMC, 1000 Ljubljana, Slovenia"},{"name":"Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/S2213-8587(18)30034-2","article-title":"A genetic approach to evaluation of short stature of undetermined cause","volume":"6","author":"Murray","year":"2018","journal-title":"Lancet Diabetes Endocrinol."},{"key":"ref_2","unstructured":"Barstow, C., and Rerucha, C. 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