{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T00:14:57Z","timestamp":1784938497736,"version":"3.55.0"},"reference-count":44,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,8,30]],"date-time":"2017-08-30T00:00:00Z","timestamp":1504051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Research Institute for Convergence of Biomedical Science and Technology","award":["30-2015-022"],"award-info":[{"award-number":["30-2015-022"]}]},{"name":"Pusan National University Yangsan Hospital"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea. We applied targeted exome sequencing using the Next Seq platform and a <jats:styled-content style=\"fixed-case\">TruSight<\/jats:styled-content> One panel.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among the 13 families, 6 different disorders in 8 patients with short stature or overgrowth were identified, and the diagnostic yield was 46.2%. One boy with overgrowth had a <jats:italic>\n<jats:styled-content style=\"fixed-case\">TGFB3<\/jats:styled-content>\n<\/jats:italic> gene mutation. In the short stature group, Coffin\u2010Lowry syndrome (<jats:styled-content style=\"fixed-case\">CLS<\/jats:styled-content>), trichorhinophalangeal syndrome, <jats:styled-content style=\"fixed-case\">DYRK1A<\/jats:styled-content> haploinsufficiency syndrome, short stature with optic atrophy and Pelger\u2010Hu\u00ebt anomaly syndrome with recurrent hepatitis, and type 4 Meier\u2010Gorlin syndrome were identified. One <jats:styled-content style=\"fixed-case\">CLS<\/jats:styled-content> patient had a co\u2010existing monogenic disease, congenital glaucoma, caused by the compound heterozygote mutations of the <jats:italic>\n<jats:styled-content style=\"fixed-case\">CYP1B1<\/jats:styled-content>\n<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Targeted exome sequencing is a powerful method for diagnosing syndromic growth disorders. It enables us to understand molecular pathophysiology and investigate new treatments for growth disorders.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cge.13038","type":"journal-article","created":{"date-parts":[[2017,4,20]],"date-time":"2017-04-20T08:54:03Z","timestamp":1492678443000},"page":"594-605","source":"Crossref","is-referenced-by-count":28,"title":["High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8440-5069","authenticated-orcid":false,"given":"Yoo\u2010Mi","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics Pusan National University Children's Hospital  Yangsan Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun\u2010Jin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Pusan National University Children's Hospital  Yangsan 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