{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:56:56Z","timestamp":1790632616612,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,3,27]],"date-time":"2014-03-27T00:00:00Z","timestamp":1395878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:p>We describe seven patients with <jats:italic><jats:styled-content style=\"fixed-case\">KDM6A<\/jats:styled-content><\/jats:italic> (located on Xp11.3 and encodes <jats:styled-content style=\"fixed-case\">UTX<\/jats:styled-content>) mutations, a rare cause of Kabuki syndrome (<jats:styled-content style=\"fixed-case\">KS2<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content> 300867) and report, for the first time, germ\u2010line missense and splice\u2010site mutations in the gene. We demonstrate that less than 5% cases of Kabuki syndrome are due to <jats:italic><jats:styled-content style=\"fixed-case\">KDM6A<\/jats:styled-content><\/jats:italic> mutations. Our work shows that similar to the commoner Type 1 Kabuki syndrome (<jats:styled-content style=\"fixed-case\">KS1<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content> 147920) caused by <jats:italic><jats:styled-content style=\"fixed-case\">KMT2D<\/jats:styled-content><\/jats:italic> (previously called <jats:italic><jats:styled-content style=\"fixed-case\">MLL2<\/jats:styled-content><\/jats:italic>) mutations, <jats:styled-content style=\"fixed-case\">KS2<\/jats:styled-content> patients are characterized by hypotonia and feeding difficulties during infancy and poor postnatal growth and short stature. Unlike <jats:styled-content style=\"fixed-case\">KS1<\/jats:styled-content>, developmental delay and learning disability are generally moderate\u2013severe in boys but mild\u2013moderate in girls with <jats:styled-content style=\"fixed-case\">KS2<\/jats:styled-content>. Some girls may have a normal developmental profile. Speech and cognition tend to be more severely affected than motor development. Increased susceptibility to infections, join laxity, heart, dental and ophthalmological anomalies are common. Hypoglycaemia is more common in <jats:styled-content style=\"fixed-case\">KS2<\/jats:styled-content> than in <jats:styled-content style=\"fixed-case\">KS1<\/jats:styled-content>. Facial dysmorphism with <jats:italic><jats:styled-content style=\"fixed-case\">KDM6A<\/jats:styled-content><\/jats:italic> mutations is variable and diagnosis on facial gestalt alone may be difficult in some patients. Hypertrichosis, long halluces and large central incisors may be useful clues to an underlying <jats:italic><jats:styled-content style=\"fixed-case\">KDM6A<\/jats:styled-content><\/jats:italic> mutation in some patients.<\/jats:p>","DOI":"10.1111\/cge.12363","type":"journal-article","created":{"date-parts":[[2014,2,17]],"date-time":"2014-02-17T10:26:24Z","timestamp":1392632784000},"page":"252-258","source":"Crossref","is-referenced-by-count":126,"title":["Novel <i><scp>KDM6A<\/scp><\/i> (<scp>UTX<\/scp>) mutations and a clinical and molecular review of the X\u2010linked Kabuki syndrome (<scp>KS2<\/scp>)"],"prefix":"10.1111","volume":"87","author":[{"given":"S.","family":"Banka","sequence":"first","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St Mary's Hospital Manchester Academic Health Science Centre (MAHSC) Manchester UK"},{"name":"Manchester Centre for Genomic Medicine, Institute of Human Development University of Manchester Manchester 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