title: Growth pattern in Kabuki syndrome with a KMT2D mutation.
abstract: Kabuki syndrome is a multiple congenital malformation syndrome with a spectrum of clinical features including short stature. Since there is no growth data on Kabuki syndrome patients with a proven KMT2D gene mutation, further research on growth and growth patterns is indicated. Data for this growth study on subjects with Kabuki syndrome were collected from referring clinicians. Subjects were eligible for inclusion in the study if the following criteria were met: a genetically confirmed diagnosis of Kabuki syndrome and no current treatment with growth hormones or other drugs that could influence growth. We present a report on growth data (n = 39) in Kabuki syndrome patients. The data showed that postnatal growth retardation is a clinical feature in all cases. All Kabuki syndrome subjects showed a growth deflection during childhood and a diminution of the pubertal growth spurt. A genotype-phenotype correlation was not observed. Further research is required in order to determine whether a defect in the growth hormone/IGF-I axis and estrogen receptor plays a role in the growth retardation. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Paediatrics Endocrinology, Zuyderland Medical Centre, Heerlen, The Netherlands.
authors.forename: Dina A
authors.initials: DA
authors.lastname: Schott
authors.affiliation: Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.
authors.forename: Marinus J
authors.initials: MJ
authors.lastname: Blok
authors.affiliation: Department of Paediatrics Endocrinology, Maastricht UMC+, Maastricht, The Netherlands.
authors.forename: Willem J M
authors.initials: WJ
authors.lastname: Gerver
authors.affiliation: Centre for Human Genetics, University of Leuven, Leuven, Belgium.
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
authors.affiliation: Department of Paediatrics Neonatology, Maastricht UMC+, Maastricht, The Netherlands.
authors.forename: Luc J I
authors.initials: LJ
authors.lastname: Zimmermann
authors.affiliation: Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.
authors.forename: Constance T R M
authors.initials: CT
authors.lastname: Stumpel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D005145:Face / Q000002:abnormalities* / Q000503:physiopathology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006402:Hematologic Diseases / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007334:Insulin-Like Growth Factor I; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D015837:Vestibular Diseases / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins; D007334:Insulin-Like Growth Factor I
keywords: KMT2D gene; Kabuki syndrome; growth analysis; growth charts; growth genetics