{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T06:54:36Z","timestamp":1788245676022,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T00:00:00Z","timestamp":1733875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    SOFT syndrome (SOFTS) is an autosomal recessive disorder caused by biallelic\n                    <jats:italic>POC1A<\/jats:italic>\n                    variants, characterized by short stature, distinctive facial features, onychodysplasia, and hypotrichosis. To date, 21 pathogenic\n                    <jats:italic>POC1A<\/jats:italic>\n                    variants have been reported in 26 families. This study aims to broaden the phenotypic and genotypic spectrum of SOFTS with emphasis on the long\u2010term effects of growth hormone (GH) therapy. We report four unrelated patients with three homozygous\n                    <jats:italic>POC1A<\/jats:italic>\n                    variants and demonstrate the transcriptional effects of two canonical splicing variants. All four patients had severe growth retardation, sparse hair\/eyebrows, high\/prominent forehead, long\/triangular face, prominent nose, short middle\/distal phalanges, puffy\/tapering fingers, and prominent heels. Endocrine abnormalities included insulin resistance and impaired glucose tolerance, dyslipidemia, GH deficiency, central hypothyroidism, and precocious puberty. Two patients treated long\u2010term with recombinant human GH showed insufficient responses. We also provide an extensive review of 43 cases including those we report, contributing to a better understanding of the full clinical and endocrinological spectrum of SOFTS.\n                  <\/jats:p>","DOI":"10.1111\/cge.14672","type":"journal-article","created":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T20:25:37Z","timestamp":1733948737000},"page":"390-401","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the Clinical and Mutational Spectrum of Biallelic\n                    <scp>\n                      <i>POC1A<\/i>\n                    <\/scp>\n                    Variants: Characterization of Four Patients and a Comprehensive Review of\n                    <scp>POC1A<\/scp>\n                    \u2010Related Phenotypes"],"prefix":"10.1111","volume":"107","author":[{"given":"Umut","family":"Altunoglu","sequence":"first","affiliation":[{"name":"Medical Genetics Department Koc University School of Medicine (KUSOM)  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gozde Tutku","family":"Turgut","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esin Karak\u0131l\u0131\u00e7","family":"\u00d6zturan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tu\u011fba","family":"Kalayc\u0131","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mert","family":"Kaya","sequence":"additional","affiliation":[{"name":"Graduate School of Health Sciences Koc University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcven","family":"Toksoy","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Firdevs","family":"Ba\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Koc University School of Medicine (KUSOM)  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feyza","family":"Darendeliler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.003"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.025"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200908019"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.111203"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1530\/JME\u201015\u20100090"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201017\u20100431"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13911"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010019\u20100693\u20102"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201021\u20100609"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejendo\/lvae009"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37393"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2022.2103837"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.174"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv261"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010021\u201001055\u20101"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2021.12133"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.4103\/abr.abr_13_18"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61015"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.02.011"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420520"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1113314"},{"issue":"1","key":"e_1_2_10_23_1","first-page":"56","article-title":"SOFT 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