Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 - Université Paris Cité Accéder directement au contenu
Article Dans Une Revue Human Mutation Année : 2016

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

1 UMG - University Medical Center Göttingen
2 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
3 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
4 University Hospital of Cologne [Cologne]
5 Koç University
6 Faculty of Medicine [Hacettepe University]
7 CHU Montpellier
8 Marmara University [Kadıköy - İstanbul]
9 Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf]
10 TU Dresden - Technische Universität Dresden = Dresden University of Technology
11 IMU - Innsbruck Medical University = Medizinische Universität Innsbruck
12 TUM - Technische Universität Munchen - Technical University Munich - Université Technique de Munich
13 Helmholtz Zentrum München = German Research Center for Environmental Health
14 UM - Université de Montpellier
15 UWA - The University of Western Australia
16 University of Cologne
17 Departement of Genetics [University of Istanbul]
18 Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré]
19 CHU Nantes - Centre Hospitalier Universitaire de Nantes
20 CHU Bordeaux
21 U1211 INSERM/MRGM - Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux)
22 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
23 Hôpital Necker - Enfants Malades [AP-HP]
24 CRNL - Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center
25 CHU Nice - Centre Hospitalier Universitaire de Nice
26 Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré]
27 Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier]
Hulya Kayserili
  • Fonction : Auteur
Nursel Elcioglu
  • Fonction : Auteur
  • PersonId : 907349
Gareth Baynam
  • Fonction : Auteur
  • PersonId : 907347
Peter Nurnberg
  • Fonction : Auteur
  • PersonId : 889157

Résumé

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.

Dates et versions

hal-01847014 , version 1 (23-07-2018)

Identifiants

Citer

Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hulya Kayserili, Jutta Becker, et al.. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Human Mutation, 2016, 37 (9), pp.847 - 864. ⟨10.1002/humu.23026⟩. ⟨hal-01847014⟩
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