Growth charts in Kabuki syndrome 1.
Abnormalities, Multiple
/ diagnosis
Adolescent
Body Height
Body Mass Index
Body Weight
Child
Child, Preschool
DNA-Binding Proteins
/ genetics
Face
/ abnormalities
Female
Growth Charts
Hematologic Diseases
/ diagnosis
Histone Demethylases
/ genetics
Humans
Male
Mutation
/ genetics
Neoplasm Proteins
/ genetics
Vestibular Diseases
/ diagnosis
Kabuki syndrome
growth
growth hormone deficiency
parental target size
specific curves
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
11
09
2019
revised:
29
11
2019
accepted:
02
12
2019
pubmed:
27
12
2019
medline:
5
1
2021
entrez:
27
12
2019
Statut:
ppublish
Résumé
Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for size prognosis and investigate the impact of growth hormone therapy on adult height. Growth parameters and parental size were obtained for 95 KS1 individuals (41 females). Growth charts for height, weight, body mass index (BMI) and occipitofrontal circumference were generated in standard deviation values for the first time in KS1. Statural growth of KS1 individuals was compared to parental target size. According to the charts, height, weight, BMI, and occipitofrontal circumference were lower for KS1 individuals than the normative French population. For males and females, the mean growth of KS1 individuals was -2 and -1.8 SD of their parental target size, respectively. Growth hormone therapy did not increase size beyond the predicted size. This study, from the largest cohort available, proposes growth charts for widespread use in the management of KS1, especially for size prognosis and screening of other diseases responsible for growth impairment beyond a calculated specific target size.
Identifiants
pubmed: 31876365
doi: 10.1002/ajmg.a.61462
doi:
Substances chimiques
DNA-Binding Proteins
0
KMT2D protein, human
0
Neoplasm Proteins
0
Histone Demethylases
EC 1.14.11.-
KDM6A protein, human
EC 1.14.11.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
446-453Subventions
Organisme : French Kabuki Association
Pays : International
Organisme : Fondation Maladies Rares
Pays : International
Organisme : French Ministry of Health
Pays : International
Informations de copyright
© 2019 Wiley Periodicals, Inc.
Références
Armstrong, L., El Moneim, A. A., Aleck, K., Aughton, D. J., Baumann, C., Braddock, S. R., … Allanson, J. E. (2004). Further delineation of Kabuki syndrome in 48 well-defined new individuals. American Journal of Medical Genetics. Part A, 132A(3), 265-272.
Bögershausen, N., & Wollnik, B. (2013). Unmasking Kabuki syndrome. Clinical Genetics, 83(3), 201-211.
Chu, D.-C., Finley, S. C., Young, D. W., & Proud, V. K. (1997). CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review. American Journal of Medical Genetics, 72(2), 205-209.
Deheeger, M., & Rolland-Cachera, M. F. (2004). Longitudinal study of anthropometric measurements in Parisian children aged ten months to 18 years. Archives of Pediatrics, 11(9), 1139-1144.
de Onis, M. (2007). Development of a WHO growth reference for school-aged children and adolescents. Bulletin of the World Health Organization, 85(09), 660-667.
Kuroki, Y., Suzuki, Y., Chyo, H., Hata, A., & Matsui, I. (1981). A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. The Journal of Pediatrics, 99(4), 570-573.
Lederer, D., Grisart, B., Digilio, M. C., Benoit, V., Crespin, M., Ghariani, S. C., … Verellen-Dumoulin, C. (2012). Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. American Journal of Human Genetics, 90(1), 119-124.
Matsumoto, N., & Niikawa, N. (2003). Kabuki make-up syndrome: A review. American Journal of Medical Genetics, 117C(1), 57-65.
Matta, J., Carette, C., Rives Lange, C., & Czernichow, S. (2018). French and worldwide epidemiology of obesity. Presse Médicale, 47(5), 434-438.
Miyake, N., Mizuno, S., Okamoto, N., Ohashi, H., Shiina, M., Ogata, K., … Matsumoto, N. (2013). KDM6A point mutations cause Kabuki syndrome. Human Mutation, 34(1), 108-110.
Ng, S. B., Bigham, A. W., Buckingham, K. J., Hannibal, M. C., McMillin, M. J., Gildersleeve, H. I., … Shendure, J. (2010). Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics, 42(9), 790-793.
Niikawa, N., Matsuura, N., Fukushima, Y., Ohsawa, T., & Kajii, T. (1981). Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. The Journal of Pediatrics, 99(4), 565-569.
Schott, D. A., Blok, M. J., Gerver, W. J. M., Devriendt, K., Zimmermann, L. J. I., & Stumpel, C. T. R. M. (2016). Growth pattern in Kabuki syndrome with a KMT2D mutation. American Journal of Medical Genetics. Part A, 170(12), 3172-3179.
Schott, D. A., Gerver, W. J. M., & Stumpel, C. T. R. M. (2017). Growth hormone therapy in children with Kabuki syndrome: 1-year treatment results. Hormone Research in Paediatrics, 88(3-4), 258-264.
Schrander-Stumpel, C. T. R. M., Spruyt, L., Curfs, L. M. G., Defloor, T., & Schrander, J. J. P. (2005). Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. American Journal of Medical Genetics. Part A, 132A(3), 234-243.
Sempé M, Pédron G, Roy-Pernot MP. (1979). Auxologies méthode et séquences. Théraplix Paris
Stanisopoulos DM, Rigby B, Akantziliotou C. (2008). Instructions on how to use the gamlss package in R, Second edition. Retrieved from http://gamlss.org/images/stories/papers/gamlss-manual.pdf.
WHO. (1995). An evaluation of infant growth: The use and interpretation of anthropometry in infants. Bulletin of the World Health Organization, 73, 165-174.