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Heterozygous mutations in <jats:italic>ANKRD11<\/jats:italic> gene, or deletion of 16q24.3 that includes <jats:italic>ANKRD11<\/jats:italic> gene are the cause of KBG syndrome. We describe two patients presenting with short stature and partial facial features, whereas no intellectual disability or hearing loss was observed in them. Two <jats:italic>ANKRD11<\/jats:italic> variants, c.4039_4041del (p. Lys1347del) and c.6427C\u2009&gt;\u2009G (p. Leu2143Val), were identified in this study. Both of them were classified as variants of uncertain significance (VOUS) by ACMG\/AMP guidelines and were inherited from their mothers. ANKRD11 could enhance the transactivation of <jats:italic>p21<\/jats:italic> gene, which was identified to participate in chondrogenic differentiation. In this study, we demonstrated that the knockdown of <jats:italic>ANKRD11<\/jats:italic> could reduce the <jats:italic>p21<\/jats:italic>\u2010promoter luciferase activities while re\u2010introduction of wild type ANKRD11, but not ANKRD11 variants (p. Lys1347del or p. Leu2143Val), could restore the p21 levels. Thus, our study report two loss\u2010of\u2010function ANKRD11 variants which might provide new insight on pathogenic mechanism that correlates ANKRD11 variants with the short stature phenotype of KBG syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62024","type":"journal-article","created":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T10:39:31Z","timestamp":1608806371000},"page":"710-718","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Two loss\u2010of\u2010function <scp><i>ANKRD11<\/i><\/scp> variants in Chinese patients with short stature and a possible molecular pathway"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7362-6608","authenticated-orcid":false,"given":"Tingting","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University  Shanghai 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