{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T08:00:50Z","timestamp":1785225650273,"version":"3.55.0"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T00:00:00Z","timestamp":1735862400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>KBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis. Whole exome sequencing identified a novel frameshift variant in the ANKRD11 gene which ultimately led to the diagnosis of KBG syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this study we have identified a previously unreported frameshift variant (NM_013275.6:c.2589dup) in ANKRD11 that causes KBG syndrome. This finding expands both the molecular and clinical spectrum of this rare genetic disease.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2024.1439905","type":"journal-article","created":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T06:48:35Z","timestamp":1735886915000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome"],"prefix":"10.3389","volume":"15","author":[{"given":"Qing","family":"Shao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqi","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yimei","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoyu","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,1,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"110","DOI":"10.3343\/alm.2024.44.1.110","article-title":"Identification of two novel ANKRD11 mutations: highlighting incomplete penetrance in KBG syndrome","volume":"44","author":"Amllal","year":"2023","journal-title":"Ann. 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