Send to

Choose Destination
Clin Genet. 2017 Sep;92(3):298-305. doi: 10.1111/cge.13010. Epub 2017 May 18.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Author information

Département de génétique médicale, maladies rares et médecine personnalisée, centre de référence anomalies du développement et syndromes malformatifs, Unité Inserm U1183, Hôpital Arnaud de Villeneuve, Université Montpellier, CHU Montpellier, Montpellier, France.
Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Département de l'information médicale, CHRU Montpellier, Montpellier, France.
Service de génétique médicale, Hôpital Robert Debré, Paris, France.
Service de génétique, CHU, Tours, France.
Service de génétique clinique, Hôpital Sud CHU Rennes, Université de Rennes 1, CNRS UMR, Rennes, France.
Service de génétique médicale, INSERM U1211, CHU Bordeaux, Bordeaux, France.
Unité de génétique médicale, CHU La Réunion, site GHSR, La Réunion, France.
Service de génétique médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Centre de Génétique et Centre de Référence Anomalies du développement et Syndrome Malformatifs, CHU de Dijon et Université de Bourgogne, Dijon, France.
Service de radiologie pédiatrique, Hôpital Necker Enfants Malades, Paris, France.
Laboratoire Epsylon, EA 4556, Université Paul Valéry Montpellier, Montpellier, France.
Laboratoire de Génétique des Maladies Rares et Maladies Auto-Inflammatoires, Hopital A de Villeneuve, Montpellier, France.
HCL, Service de génétique; Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Université Claude Bernard Lyon 1, Lyon, France.


Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI). In addition, molecular data and several clinical symptoms were studied. FSIQ and VCI scores were 10 points lower for patients with a truncating mutation than other types of mutations. In addition, scores for FSIQ, VCI and PRI were lower for children with visual impairment than normal vision. We also identified a discrepancy in indexes characterized by high WMI and VCI and low PRI and PSI. We emphasize the importance of early identification and intensive care of visual disorders in patients with KS and recommend individual assessment of intellectual profile.


KMT2D mutation; Kabuki syndrome; genotype-phenotype correlation; neuropsychology

[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Wiley Icon for HAL archives ouvertes
Loading ...
Support Center