title: Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
abstract: 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.
authors.affiliation: 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.
authors.forename: N
authors.identifier: http://orcid.org/0000-0002-3773-672X
authors.initials: N
authors.lastname: Lehman
authors.affiliation: Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
authors.forename: A C
authors.initials: AC
authors.lastname: Mazery
authors.affiliation: Département de l'information médicale, CHRU Montpellier, Montpellier, France.
authors.forename: A
authors.initials: A
authors.lastname: Visier
authors.affiliation: Service de génétique médicale, Hôpital Robert Debré, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Baumann
authors.affiliation: Service de génétique médicale, Hôpital Robert Debré, Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Lachesnais
authors.affiliation: Service de génétique médicale, Hôpital Robert Debré, Paris, France.
authors.forename: Y
authors.initials: Y
authors.lastname: Capri
authors.affiliation: Service de génétique, CHU, Tours, France.
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.affiliation: Service de génétique clinique, Hôpital Sud CHU Rennes, Université de Rennes 1, CNRS UMR, Rennes, France.
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.affiliation: Service de génétique clinique, Hôpital Sud CHU Rennes, Université de Rennes 1, CNRS UMR, Rennes, France.
authors.forename: M
authors.initials: M
authors.lastname: Mikaty
authors.affiliation: Service de génétique médicale, INSERM U1211, CHU Bordeaux, Bordeaux, France.
authors.forename: C
authors.initials: C
authors.lastname: Goizet
authors.affiliation: Service de génétique médicale, INSERM U1211, CHU Bordeaux, Bordeaux, France.
authors.forename: E
authors.initials: E
authors.lastname: Taupiac
authors.affiliation: Unité de génétique médicale, CHU La Réunion, site GHSR, La Réunion, France.
authors.forename: M L
authors.initials: ML
authors.lastname: Jacquemont
authors.affiliation: 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.
authors.forename: E
authors.initials: E
authors.lastname: Sanchez
authors.affiliation: Service de génétique médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: E
authors.initials: E
authors.lastname: Schaefer
authors.affiliation: 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.
authors.forename: V
authors.initials: V
authors.lastname: Gatinois
authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du développement et Syndrome Malformatifs, CHU de Dijon et Université de Bourgogne, Dijon, France.
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du développement et Syndrome Malformatifs, CHU de Dijon et Université de Bourgogne, Dijon, France.
authors.forename: D
authors.initials: D
authors.lastname: Minot
authors.affiliation: Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Kayirangwa
authors.affiliation: Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
authors.forename: K-H L Q
authors.initials: KLQ
authors.lastname: Sang
authors.affiliation: Service de radiologie pédiatrique, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Boddaert
authors.affiliation: Laboratoire Epsylon, EA 4556, Université Paul Valéry Montpellier, Montpellier, France.
authors.forename: S
authors.initials: S
authors.lastname: Bayard
authors.affiliation: Service de génétique médicale, INSERM U1211, CHU Bordeaux, Bordeaux, France.
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.affiliation: Service de génétique médicale, INSERM U1211, CHU Bordeaux, Bordeaux, France.
authors.forename: S
authors.initials: S
authors.lastname: Moutton
authors.affiliation: 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.|Laboratoire de Génétique des Maladies Rares et Maladies Auto-Inflammatoires, Hopital A de Villeneuve, Montpellier, France.
authors.forename: I
authors.initials: I
authors.lastname: Touitou
authors.affiliation: Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Rio
authors.affiliation: Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.affiliation: Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.affiliation: 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.
authors.forename: D
authors.initials: D
authors.lastname: Sanlaville
authors.affiliation: Département de l'information médicale, CHRU Montpellier, Montpellier, France.
authors.forename: M C
authors.initials: MC
authors.lastname: Picot
authors.affiliation: 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.
authors.forename: D
authors.initials: D
authors.lastname: Geneviève
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D000483:Alleles; D002648:Child; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D023061:Gene Order; D056726:Genetic Association Studies; D056426:Genetic Loci; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007360:Intelligence; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009483:Neuropsychological Tests; D010641:Phenotype; D015837:Vestibular Diseases / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins
keywords: KMT2D mutation; Kabuki syndrome; genotype-phenotype correlation; neuropsychology