Universität zu Köln

Boegershausen, Nina, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Yigit, Goekhan, Kayserili, Huelya, Nuernberg, Peter, Li, Yun, Altmueller, Janine and Wollnik, Bernd (2016). An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity. Am. J. Med. Genet. A, 170 (12). S. 3282 - 3289. HOBOKEN: WILEY. ISSN 1552-4833

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Abstract

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 KMT2D or KDM6A. We describe a 14-year-old 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 KMT2D mutation c.10588delC, p.(Glu3530Serfs*128) by Mendeliome (Illumina TruSight One (R)) 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 KMT2D-associated spectrum of anomalies. We thus extend the range of KS-associated malformations and propose a hypothetical connection between KMT2D and Notch signaling. (C) 2016 Wiley Periodicals, Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Boegershausen, Nina UNSPECIFIED UNSPECIFIED UNSPECIFIED Altunoglu, Umut UNSPECIFIED orcid.org/0000-0002-3172-5368 UNSPECIFIED Beleggia, Filippo UNSPECIFIED orcid.org/0000-0003-0234-7094 UNSPECIFIED Yigit, Goekhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Kayserili, Huelya UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Yun UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-254484
DOI:	10.1002/ajmg.a.37931
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	170
Number:	12
Page Range:	S. 3282 - 3289
Date:	2016
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language WILLIAMS-SYNDROME; ALAGILLE-SYNDROME; CHARGE ASSOCIATION; HARDIKAR SYNDROME; BILIARY ATRESIA; MUTATIONS; INFANT; MALFORMATION; PHENOTYPE; FEATURES Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/25448