{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T03:29:16Z","timestamp":1773286156638,"version":"3.50.1"},"reference-count":47,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T00:00:00Z","timestamp":1471392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"German Federal Ministry of Education and Research (BMBF)","award":["01GM0801"],"award-info":[{"award-number":["01GM0801"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Kabuki syndrome (KS) is a rare developmental disorder characterized by multiple congenital malformations, postnatal growth retardation, intellectual disability, and recognizable facial features. It is mainly caused by mutations in either <jats:italic>KMT2D<\/jats:italic> or <jats:italic>KDM6A<\/jats:italic>. We describe a 14\u2010year\u2010old boy with KS presenting with an unusual combination of bilateral microphthalmia with orbital cystic venous lymphatic malformation and neonatal cholestasis with bile duct paucity, in addition to the typical clinical features of KS. We identified the novel <jats:italic>KMT2D<\/jats:italic> mutation c.10588delC, p.(Glu3530Serfs*128) by Mendeliome (Illumina TruSight One\u00ae) sequencing, a next generation sequencing panel targeting 4,813 genes linked to human genetic disease. We analyzed the Mendeliome data for additional mutations which might explain the exceptional clinical presentation of our patient but did not find any, leading us to suspect that the above named symptoms might be part of the <jats:italic>KMT2D<\/jats:italic>\u2010associated spectrum of anomalies. We thus extend the range of KS\u2010associated malformations and propose a hypothetical connection between <jats:italic>KMT2D<\/jats:italic> and Notch signaling. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37931","type":"journal-article","created":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T10:55:16Z","timestamp":1471431316000},"page":"3282-3288","source":"Crossref","is-referenced-by-count":19,"title":["An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity"],"prefix":"10.1002","volume":"170","author":[{"given":"Nina","family":"B\u00f6gershausen","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Medical Center Goettingen Goettingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[{"name":"Istanbul Medical Faculty, Department of Medical Genetics Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Beleggia","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Duesseldorf Duesseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00f6khan","family":"Yigit","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center Goettingen Goettingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ko\u00e7 University School of Medicine Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center Goettingen Goettingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janine","family":"Altm\u00fcller","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics University of Cologne Cologne Germany"},{"name":"Institute of Human Genetics University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center Goettingen Goettingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,8,17]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00348.x"},{"key":"e_1_2_13_3_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Adam MP","year":"2011"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810500374433"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.009"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M115.655548"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8175.2011.01651.x"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12051"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI80102"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23026"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2415-14-143"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2008.227"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100249900165"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1747-0803.2007.00136.x"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01672.x"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0723s81"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.110.203034"},{"key":"e_1_2_13_18_1","first-page":"1","article-title":"Duplicated left pulmonary artery: An unknown disease? Three case reports and review of the literature","volume":"5","author":"Giudici V","year":"2015","journal-title":"Cardiol Young"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.1.140-149.2003"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.12580"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32819"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1363"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.11.011"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819109023682"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37613"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819109023083"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<157::AID-AJMG16>3.0.CO;2-F"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000092"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20277"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22229"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-008-9286-0"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20387"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32226"},{"key":"e_1_2_13_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2005.074740"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951113000644"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)77409-4"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10792-012-9653-y"},{"key":"e_1_2_13_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.138"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.01.008"},{"key":"e_1_2_13_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu156"},{"key":"e_1_2_13_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1253"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32356"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-008-9197-0"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2004.02.001"},{"key":"e_1_2_13_46_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Spinner NB","year":"2000"},{"key":"e_1_2_13_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000911)94:2<170::AID-AJMG10>3.0.CO;2-2"},{"key":"e_1_2_13_48_1","first-page":"510","article-title":"An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome","volume":"57","author":"Verhagen JMA","year":"2014","journal-title":"Eur J Hum Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37931","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37931","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37931","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:42:04Z","timestamp":1696642924000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37931"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,17]]},"references-count":47,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/ajmg.a.37931"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37931","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,17]]}}}