{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T17:56:12Z","timestamp":1777485372013,"version":"3.51.4"},"reference-count":57,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T00:00:00Z","timestamp":1697155200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Foundation of Korea grant funded by the Korean government","award":["2018R1C1B5086428"],"award-info":[{"award-number":["2018R1C1B5086428"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>The most common causes of short stature (SS) in children are familial short stature (FSS) and idiopathic short stature (ISS). Recently, growth plate dysfunction has been recognized as the genetic cause of FSS or ISS. The aim of this study was to investigate monogenic growth failure in patients with ISS and FSS. Targeted exome sequencing was performed in patients categorized as ISS or FSS and the subsequent response to growth hormone (GH) therapy was analyzed. We found 17 genetic causes involving 12 genes (NPR2, IHH, BBS1, COL1A1, COL2A1, TRPS1, MASP1, SPRED1, PTPTN11, ADNP, NADSYN1, and CERT1) and 2 copy number variants. A genetic cause was found in 45.5% and 35.7% of patients with FSS and ISS, respectively. The genetic yield in patients with syndromic and non-syndromic SS was 90% and 23.1%, respectively. In the 11 genetically confirmed patients, a gain in height from \u22122.6 to \u22121.3 standard deviations after 2 years of GH treatment was found. The overall diagnostic yield in this study was 41.7%. We identified several genetic causes involving paracrine signaling, the extracellular matrix, and basic intracellular processes. Identification of the causative gene may provide prognostic evidence for the use of GH therapy in non-SGA children.<\/jats:p>","DOI":"10.3390\/jcm12206508","type":"journal-article","created":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T10:04:39Z","timestamp":1697191479000},"page":"6508","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8440-5069","authenticated-orcid":false,"given":"Yoo-Mi","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea"},{"name":"Department of Pediatrics, School of Medicine, Chungnam National University, Daejeon 34134, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han-Hyuk","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Chungnam National University, Daejeon 34134, Republic of Korea"},{"name":"Department of Pediatrics, Chungnam National University Hospital, Daejeon 35015, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eunhee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea"},{"name":"Department of Pediatrics, School of Medicine, Chungnam National University, Daejeon 34134, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6837-7475","authenticated-orcid":false,"given":"Geena","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea"},{"name":"Department of Pediatrics, School of Medicine, Chungnam National University, Daejeon 34134, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5588-5414","authenticated-orcid":false,"given":"Minji","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea"},{"name":"Department of Pediatrics, School of Medicine, Chungnam National University, Daejeon 34134, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyejin","family":"So","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byoung Kook","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea"},{"name":"Department of Pediatrics, School of Medicine, Chungnam National University, Daejeon 34134, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9249-7493","authenticated-orcid":false,"given":"Yoowon","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1535-7769","authenticated-orcid":false,"given":"Jeesu","family":"Min","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Seok","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Radiology, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1038\/nrendo.2015.165","article-title":"Short and tall stature: A new paradigm emerges","volume":"11","author":"Baron","year":"2015","journal-title":"Nat. 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