Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-Linked Kabuki Syndrome subtype 2

N. Bögershausen; V. Gatinois; V. Riehmer; H. Kayserili; J. Becker; M. Thoenes; P.Ö. Simsek-Kiper; M. Barat-Houari; N.H. Elcioglu; D. Wieczorek; S. Tinschert; G. Sarrabay; T.M. Strom; A. Fabre; G. Baynam; E. Sanchez; G. Nürnberg; U. Altunoglu; Y. Capri; B. Isidor; D. Lacombe; C. Corsini; V. Cormier-Daire; D. Sanlaville; F. Giuliano; K-H Le Quan Sang; H. Kayirangwa; P. Nürnberg; T. Meitinger; K. Boduroglu; B. Zoll; S. Lyonnet; A. Tzschach; A. Verloes; N. Di Donato; I. Touitou; C. Netzer; Y. Li; D. Geneviève; G. Yigit; B. Wollnik

doi:10.1002/humu.23026

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Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-Linked Kabuki Syndrome subtype 2

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Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-Linked Kabuki Syndrome subtype 2

N. Bögershausen, V. Gatinois, V. Riehmer, H. Kayserili, J. Becker, M. Thoenes, P.Ö. Simsek-Kiper, M. Barat-Houari, N.H. Elcioglu, D. Wieczorek, …

Human Mutation, Vol.37(9), pp.847-864

2016

DOI: https://doi.org/10.1002/humu.23026

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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 Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel.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.

Details

Title: Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-Linked Kabuki Syndrome subtype 2
Authors/Creators: N. Bögershausen (Author/Creator) - University of Göttingen
V. Gatinois (Author/Creator) - Inserm
V. Riehmer (Author/Creator) - University of Cologne
H. Kayserili (Author/Creator) - Koç University
J. Becker (Author/Creator) - University of Cologne
M. Thoenes (Author/Creator) - University of Cologne
P.Ö. Simsek-Kiper (Author/Creator) - Hacettepe University
M. Barat-Houari (Author/Creator) - Inserm
N.H. Elcioglu (Author/Creator) - Marmara University
D. Wieczorek (Author/Creator) - Heinrich Heine University Düsseldorf
S. Tinschert (Author/Creator) - University Hospital Carl Gustav Carus
G. Sarrabay (Author/Creator) - Inserm
T.M. Strom (Author/Creator) - Technical University of Munich
A. Fabre (Author/Creator) - Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.
G. Baynam (Author/Creator) - King Edward Memorial Hospital
E. Sanchez (Author/Creator) - Inserm
G. Nürnberg (Author/Creator) - University of Cologne
U. Altunoglu (Author/Creator) - Istanbul University
Y. Capri (Author/Creator) - Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.
B. Isidor (Author/Creator) - Nantes Université
D. Lacombe (Author/Creator) - Bordeaux Population Health
C. Corsini (Author/Creator) - Inserm
V. Cormier-Daire (Author/Creator) - Délégation Paris 5
D. Sanlaville (Author/Creator) - Inserm
F. Giuliano (Author/Creator) - L'Arche
K-H Le Quan Sang (Author/Creator) - Délégation Paris 5
H. Kayirangwa (Author/Creator) - Délégation Paris 5
P. Nürnberg (Author/Creator) - University of Cologne
T. Meitinger (Author/Creator) - Technical University of Munich
K. Boduroglu (Author/Creator) - Hacettepe University
B. Zoll (Author/Creator) - University of Göttingen
S. Lyonnet (Author/Creator) - Délégation Paris 5
A. Tzschach (Author/Creator) - University Hospital Carl Gustav Carus
A. Verloes (Author/Creator) - Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.
N. Di Donato (Author/Creator) - University Hospital Carl Gustav Carus
I. Touitou (Author/Creator) - Inserm
C. Netzer (Author/Creator)
Y. Li (Author/Creator) - University of Göttingen
D. Geneviève (Author/Creator) - Inserm
G. Yigit (Author/Creator) - University of Göttingen
B. Wollnik (Author/Creator) - University of Göttingen
Publication Details: Human Mutation, Vol.37(9), pp.847-864
Publisher: John Wiley & Sons Inc.
Identifiers: 991005540207307891
Copyright: © 2016 WILEY PERIODICALS, INC.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.186 Chromosome Disorders; 1.186.948 Chromosomal Abnormalities
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics