{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T21:22:03Z","timestamp":1774560123612,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,9,30]],"date-time":"2019-09-30T00:00:00Z","timestamp":1569801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008853","name":"Jining Medical University","doi-asserted-by":"publisher","award":["2018\u2010BS\u2010007"],"award-info":[{"award-number":["2018\u2010BS\u2010007"]}],"id":[{"id":"10.13039\/501100008853","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pathogenic variants of <jats:italic>ANKRD11<\/jats:italic> have been reported to cause KBG syndrome characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and skeletal anomalies. However, the direct clinical relevance of <jats:italic>ANKRD11<\/jats:italic> mutation with short stature is yet unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here, we report a Chinese boy with idiopathic short stature (ISS) based on clinical and genetic characteristics. Comprehensive medical evaluations were performed including metabolic studies, endocrine function tests, bone X\u2010rays, and echocardiography. Whole\u2010exome and Sanger sequencing was used to detect and confirm genetic mutations associated with short stature in this patient, respectively. The pathogenicity of the variant was further predicted by several in silico prediction tools and repositories of sequence variation. Twenty\u2010four months follow\u2010up was performed to observe the growth rate of the patient treated with recombinant human growth hormone (GH).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One heterozygous point mutation (c.2579C&gt;T) was confirmed in the <jats:italic>ANKRD11<\/jats:italic> gene of the patient and inherited from his mother. This mutation site was located within the highly conservative region of ANKRD11 protein and predicted to be possibly damaging in several in silico prediction programs and repositories of sequence variation. Additionally, patient underwent GH replacement therapy for 24\u00a0months exhibited good response to the treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A heterozygous point mutation of <jats:italic>AKNRD11<\/jats:italic> gene was identified in a Chinese patient with short stature phenotype. The patient was treated effectively with GH supplementation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.988","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T04:13:55Z","timestamp":1569903235000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A heterozygous point mutation of the <i>ANKRD11<\/i> (c.2579C&gt;T) in a Chinese patient with idiopathic short stature"],"prefix":"10.1002","volume":"7","author":[{"given":"Yabin","family":"Kang","sequence":"first","affiliation":[{"name":"Graduate School Tianjin Medical University Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongye","family":"He","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6704-7354","authenticated-orcid":false,"given":"Bo","family":"Ban","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,9,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00116.2007"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2017.10.017"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-015-0126-7"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2014.11.031"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37878"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2017.12.003"},{"issue":"5","key":"e_1_2_7_8_1","first-page":"7","article-title":"The KBG syndrome\u2010a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies","volume":"11","author":"Herrmann J.","year":"1975","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.105"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2017.12.008"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.6065\/apem.2017.22.3.153"},{"issue":"6","key":"e_1_2_7_12_1","first-page":"452","article-title":"A case of KBG syndrome caused by mutation of ANKRD11 gene and literature review","volume":"13","author":"Li Q. 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