{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T21:22:10Z","timestamp":1774560130989,"version":"3.50.1"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T00:00:00Z","timestamp":1614643200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T00:00:00Z","timestamp":1614643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Guiding project of the Natural Science Foundation of Fujian Province","award":["2019D010"],"award-info":[{"award-number":["2019D010"]}]},{"name":"Young and Middle-aged Talent Cultivation Projects of Fujian Province","award":["2019-ZQNB-31"],"award-info":[{"award-number":["2019-ZQNB-31"]}]},{"name":"Young and Middle-aged Talent Cultivation Projects of Fujian Province","award":["2019-ZQNB-32"],"award-info":[{"award-number":["2019-ZQNB-32"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>KBG syndrome is a rare autosomal dominant genetic disease mainly caused by pathogenic variants of <jats:italic>ankyrin repeat domain-containing protein 11 (ANKRD11)<\/jats:italic> or deletions involving <jats:italic>ANKRD11<\/jats:italic>. Herein, we report a novel de novo heterozygous frameshift <jats:italic>ANKRD11<\/jats:italic> variant via whole exome sequencing in a Chinese girl with KBG syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 2-year-2-month-old girl presented with a short stature and developmental delay. Comprehensive physical examinations, endocrine laboratory tests and imaging examination were performed. Whole\u2010exome sequencing and Sanger sequencing were used to detect and confirm the variant associated with KBG in this patient, respectively. The pathogenicity of the variant was further predicted by several in silico prediction tools. The patient was diagnosed as KBG syndrome with a short stature and developmental delay, as well as characteristic craniofacial abnormalities, including a triangular face, long philtrum, wide eyebrows, a broad nasal bridge, prominent and protruding ears, macrodontia of the upper central incisors, dental crowding, and binocular refractive error. Her skeletal anomalies included brachydactyly, fifth finger clinodactyly, and left-skewed caudal vertebrae. Electroencephalographic results generally showed normal background activity with sporadic spikes and slow wave complexes, as well as multiple spikes and slow wave complexes in the bilateral parietal, occipital, and posterior temporal regions during non-rapid-eye-movement sleep. Brain MRI showed a distended change in the bilateral ventricles and third ventricle, as well as malformation of the sixth ventricle. Whole exome sequencing revealed a novel heterozygous frameshift variant in the patient, <jats:italic>ANKRD11<\/jats:italic> c.1366_1367dup, which was predicted to be pathogenic through in silico analysis. The patient had received physical therapy since 4\u00a0months of age, and improvement of gross motor dysfunction was evident.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The results of this study expand the spectrum of <jats:italic>ANKRD11<\/jats:italic> variants in KBG patients and provide clinical phenotypic data for KBG syndrome at an early age. Our study also demonstrates that whole exome sequencing is an effective method for the diagnosis of rare genetic disorders.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-00920-3","type":"journal-article","created":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T13:04:15Z","timestamp":1614690255000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome"],"prefix":"10.1186","volume":"14","author":[{"given":"Jing","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongmin","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulin","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaomin","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3196-8933","authenticated-orcid":false,"given":"Xudong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiwei","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,3,2]]},"reference":[{"issue":"5","key":"920_CR1","first-page":"7","volume":"11","author":"J Herrmann","year":"1975","unstructured":"Herrmann J, Pallister PD, Tiddy W, Opitz JM. 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Written informed consent was obtained from the parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication were obtained from the patient\u2019s parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"68"}}