Boegershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume ORCID: 0000-0002-9943-9368, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Capri, Yline, Isidor, Bertrand, Lacombe, Didier ORCID: 0000-0002-8956-2207, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien ORCID: 0000-0001-9939-2849, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Zoll, Barbara, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Tzschach, Andreas ORCID: 0000-0002-6840-965X, Verloes, Alain, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan and Wollnik, Bernd (2016). Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum. Mutat., 37 (9). S. 847 - 865. HOBOKEN: WILEY. ISSN 1098-1004

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Abstract

Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo. We give an up-to-date overview of all published mutations for the two KS genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well-defined X-linked KS type 2, and comment on phenotype-genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Boegershausen, NinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gatinois, VincentUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riehmer, VeraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kayserili, HuelyaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, JuttaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thoenes, MichaelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simsek-Kiper, Pelin OEzlemUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barat-Houari, MounaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Elcioglu, Nursel H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wieczorek, DagmarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tinschert, SigridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sarrabay, GuillaumeUNSPECIFIEDorcid.org/0000-0002-9943-9368UNSPECIFIED
Strom, Tim M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fabre, AurelieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baynam, GarethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sanchez, ElodieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, GudrunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altunoglu, UmutUNSPECIFIEDorcid.org/0000-0002-3172-5368UNSPECIFIED
Capri, YlineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Isidor, BertrandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lacombe, DidierUNSPECIFIEDorcid.org/0000-0002-8956-2207UNSPECIFIED
Corsini, CaroleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cormier-Daire, ValerieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sanlaville, DamienUNSPECIFIEDorcid.org/0000-0001-9939-2849UNSPECIFIED
Giuliano, FabienneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Le Quan Sang, Kim-HanhUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kayirangwa, HonorineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meitinger, ThomasUNSPECIFIEDorcid.org/0000-0002-8838-8403UNSPECIFIED
Boduroglu, KorayUNSPECIFIEDorcid.org/0000-0001-6260-1942UNSPECIFIED
Zoll, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lyonnet, StanislasUNSPECIFIEDorcid.org/0000-0001-5426-9417UNSPECIFIED
Tzschach, AndreasUNSPECIFIEDorcid.org/0000-0002-6840-965XUNSPECIFIED
Verloes, AlainUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Di Donato, NataliyaUNSPECIFIEDorcid.org/0000-0001-9439-4677UNSPECIFIED
Touitou, IsabelleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Netzer, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, YunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Genevieve, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yigit, GoekhanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wollnik, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-265623
DOI: 10.1002/humu.23026
Journal or Publication Title: Hum. Mutat.
Volume: 37
Number: 9
Page Range: S. 847 - 865
Date: 2016
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1098-1004
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DE-NOVO MUTATIONS; DEMETHYLASE UTX; LARGE COHORT; MLL2; SPECTRUM; DELETION; IDENTIFICATION; PHENOTYPE; PATIENT; FAMILYMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/26562

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