{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T17:12:14Z","timestamp":1793293934331,"version":"4.5.0"},"reference-count":49,"publisher":"BMJ","issue":"7","funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["JR17\/00020"],"award-info":[{"award-number":["JR17\/00020"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI18\/01098"],"award-info":[{"award-number":["PI18\/01098"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2022,11,6]]},"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving\n                      <jats:italic>ANKRD11<\/jats:italic>\n                      cause KBG syndrome, but no genotype\u2013phenotype correlation has been reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in &gt;50% of the patients and a \u2018phenotypical score\u2019 were used to perform a genotype\u2013phenotype correlation in 340 patients from our cohort and the literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Neurodevelopmental delay, macrodontia, triangular face, characteristic ears, nose and eyebrows were the most prevalentf (eatures. 82.8% of the patients had at least one of seven main comorbidities: hearing loss and\/or otitis media, visual problems, cryptorchidism, cardiopathy, feeding difficulties and\/or seizures. Associations found included a higher phenotypical score in patients with sequence variants compared with CNVs and a higher frequency of triangular face (71.1% vs 42.5% in CNVs). Short stature was more frequent in patients with exon 9 variants (62.5% inside vs 27.8% outside exon 9), and the prevalence of intellectual disability\/attention deficit hyperactivity disorder\/autism spectrum disorder was lower in patients with the c.1903_1907del variant (70.4% vs 89.4% other variants). Presence of macrodontia and comorbidities were associated with larger deletion sizes and hand anomalies with smaller deletions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We present a detailed phenotypical description of KBG syndrome in the largest series reported to date of 67 patients, provide evidence of a genotype\u2013phenotype correlation between some KBG features and specific\n                      <jats:italic>ANKRD11<\/jats:italic>\n                      variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2022-108632","type":"journal-article","created":{"date-parts":[[2022,11,29]],"date-time":"2022-11-29T13:23:12Z","timestamp":1669728192000},"page":"644-654","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":21,"title":["Clinical description, molecular delineation and genotype\u2013phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9657","authenticated-orcid":false,"given":"Elena","family":"Martinez-Cayuelas","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Blanco-Kelly","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain"},{"name":"Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fermina","family":"Lopez-Grondona","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3684-9076","authenticated-orcid":false,"given":"Saoud Tahsin","family":"Swafiri","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain"},{"name":"Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Lopez-Rodriguez","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain"},{"name":"School of Pharmacy, Universidad San Pablo CEU. CEU Universities, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebeca","family":"Losada-Del Pozo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Mahillo-Fernandez","sequence":"additional","affiliation":[{"name":"Department of Statistics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Moreno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Rodrigo-Moreno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,11,29]]},"reference":[{"key":"2025101713365088000_60.7.644.1","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 Artic Ser"},{"key":"2025101713365088000_60.7.644.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.05.017"},{"key":"2025101713365088000_60.7.644.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2014.11.031"},{"key":"2025101713365088000_60.7.644.4","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.nbd.2017.12.008","article-title":"ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF\/TrkB signaling pathway","volume":"111","author":"Ka","year":"2018","journal-title":"Neurobiol 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M , Kalka E , Casta\u00f1eda J , Klapecki J , Pietrzyk A , Barczyk A , Malinowska O , Landowska A , Gambin T , Kowalczyk K , Wi\u015bniowiecka_kowalnik B , Smyk M , Dawidziuk M , Niepok\u00f3j K , PaczkowskaM SP , Lipska_zi\u0119tkiewicz B , Szcza\u0142uba K , Kostyk E , Runge A , Rutkowska K , P\u0142oski R , Nowakowska B , Bal J , Obersztyn E , Gos M . Wide fontanels, delayed speech development and hoarse voice as useful signs in thediagnosis of KBG syndrome: a clinical description of 23 cases with pathogenicvariants involving the ankrd11 gene or submicroscopic chromosomalrearrangements of 16q24.3. 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