{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:37:58Z","timestamp":1787503078134,"version":"build-2736575974"},"reference-count":59,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,3,5]],"date-time":"2022-03-05T00:00:00Z","timestamp":1646438400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Beijing Hospitals Authority Youth Programme","award":["QML20201205"],"award-info":[{"award-number":["QML20201205"]}]},{"name":"The Special Fund of The Pediatric Medical Coordinated Development Center of Beijing Municipal Administration","award":["XTYB201808"],"award-info":[{"award-number":["XTYB201808"]}]},{"name":"Supported by Shenzhen Fundamental Research Program","award":["KCXFZ20201221173400002"],"award-info":[{"award-number":["KCXFZ20201221173400002"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>KBG syndrome (KBGS) is a rare autosomal dominant inherited disease that involves multiple systems and is associated with variations in the ankyrin repeat domain 11 (ANKRD11) gene. We report the clinical and genetic data for 13 Chinese KBGS patients diagnosed by genetic testing and retrospectively analyse the genotypes and phenotypes of previously reported KBGS patients. The 13 patients in this study had heterozygous variations in the ANKRD11 gene, including seven frameshift variations, three nonsense variations, and three missense variations. They carried 11 variation sites, of which eight were previously unreported. The clinical phenotype analysis of these 13 patients and 240 previously reported patients showed that the occurrence rates of craniofacial anomalies, dental anomalies, global developmental delays, intellectual disability\/learning difficulties, limb anomalies, and behavioural anomalies were &gt;70%. The occurrence rates of short stature, delayed bone age, and spinal vertebral body anomalies were &gt;50%. The frequency of global developmental delays and intellectual disability\/learning difficulties in patients with truncated ANKRD11 gene variation was higher than that in patients with missense variation in the ANKRD11 gene (p &lt; 0.05). Collectively, this study reported the genotypic and phenotypic characteristics of the largest sample of KBGS patients from China and discovered eight new ANKRD11 gene variations, which enriched the variation spectrum of the ANKRD11 gene. Variation in the ANKRD11 gene mainly caused craniofacial anomalies, growth and developmental anomalies, skeletal system anomalies, and nervous system anomalies. Truncated variation in the ANKRD11 gene is more likely to lead to global growth retardation and intellectual disability\/learning difficulties than missense variation in ANKRD11.<\/jats:p>","DOI":"10.3390\/jpm12030407","type":"journal-article","created":{"date-parts":[[2022,3,6]],"date-time":"2022-03-06T20:38:16Z","timestamp":1646599096000},"page":"407","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature"],"prefix":"10.3390","volume":"12","author":[{"given":"Fenqi","family":"Gao","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism and Adolescent Medicine, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4101-8429","authenticated-orcid":false,"given":"Xiu","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Shenzhen Children\u2019s Hospital, Shenzhen 518000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bingyan","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism and Adolescent Medicine, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Fan","sequence":"additional","affiliation":[{"name":"Pediatric Dapartment, The Second Affiliated Hospital of Guangxi Medical University, Nanning 510000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoqiao","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism and Adolescent Medicine, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lele","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism and Adolescent Medicine, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengbin","family":"Sui","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism and Adolescent Medicine, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Shenzhen Children\u2019s Hospital, Shenzhen 518000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunxiu","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Genetics, Metabolism and Adolescent Medicine, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing 100045, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,5]]},"reference":[{"key":"ref_1","first-page":"7","article-title":"The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies","volume":"11","author":"Herrmann","year":"1975","journal-title":"Birth Defects Orig. 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