{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:35:26Z","timestamp":1790184926472,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,9,26]],"date-time":"2016-09-26T00:00:00Z","timestamp":1474848000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      KBG syndrome is characterized by short stature, distinctive facial features, and developmental\/cognitive delay and is caused by mutations in\n                      <jats:italic>ANKRD11<\/jats:italic>\n                      , one of the ankyrin repeat\u2010containing cofactors. We describe 32 KBG patients aged 2\u201347 years from 27 families ascertained via two pathways: targeted\n                      <jats:italic>ANKRD11<\/jats:italic>\n                      sequencing (TS) in a group who had a clinical diagnosis of KBG and whole exome sequencing (ES) in a second group in whom the diagnosis was unknown. Speech delay and learning difficulties were almost universal and variable behavioral problems frequent. Macrodontia of permanent upper central incisors was seen in 85%. Other clinical features included short stature, conductive hearing loss, recurrent middle ear infection, palatal abnormalities, and feeding difficulties. We recognized a new feature of a wide anterior fontanelle with delayed closure in 22%. The subtle facial features of KBG syndrome were recognizable in half the patients. We identified 20\n                      <jats:italic>ANKRD11<\/jats:italic>\n                      mutations (18 novel: all truncating) confirmed by Sanger sequencing in 32 patients. Comparison of the two ascertainment groups demonstrated that facial\/other typical features were more subtle in the ES group. There were no conclusive phenotype\u2013genotype correlations. Our findings suggest that mutation of\n                      <jats:italic>ANKRD11<\/jats:italic>\n                      is a common Mendelian cause of developmental delay. Affected patients may not show the characteristic KBG phenotype and the diagnosis is therefore easily missed. We propose updated diagnostic criteria\/clinical recommendations for KBG syndrome and suggest that inclusion of\n                      <jats:italic>ANKRD11<\/jats:italic>\n                      will increase the utility of gene panels designed to investigate developmental delay. \u00a9 2016 The Authors.\n                      <jats:italic>American Journal of Medical Genetics Part A<\/jats:italic>\n                      Published by Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37842","type":"journal-article","created":{"date-parts":[[2016,9,26]],"date-time":"2016-09-26T06:12:50Z","timestamp":1474870370000},"page":"2835-2846","source":"Crossref","is-referenced-by-count":130,"title":["Clinical and genetic aspects of KBG syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Karen","family":"Low","sequence":"first","affiliation":[{"name":"University Hospitals Bristol NHS Trust\/University of Bristol Bristol United 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