Growth charts in Kabuki syndrome 1

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.

[1]  S. Czernichow,et al.  [French and worldwide epidemiology of obesity]. , 2018, Presse medicale.

[2]  C. Stumpel,et al.  Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results , 2017, Hormone Research in Paediatrics.

[3]  K. Devriendt,et al.  Growth pattern in Kabuki syndrome with a KMT2D mutation , 2016, American journal of medical genetics. Part A.

[4]  B. Wollnik,et al.  Unmasking Kabuki syndrome , 2013, Clinical genetics.

[5]  N. Niikawa,et al.  KDM6A Point Mutations Cause Kabuki Syndrome , 2013, Human mutation.

[6]  M. Digilio,et al.  Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. , 2012, American journal of human genetics.

[7]  Emily H Turner,et al.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.

[8]  C. Nishida,et al.  Development of a WHO growth reference for school-aged children and adolescents. , 2007, Bulletin of the World Health Organization.

[9]  Marc S. Williams,et al.  Further delineation of Kabuki syndrome in 48 well‐defined new individuals , 2005, American journal of medical genetics. Part A.

[10]  L. Curfs,et al.  Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management , 2005, American journal of medical genetics. Part A.

[11]  M. Rolland-Cachera,et al.  Étude longitudinale de la croissance d'enfants parisiens suivis de l'âge de 10 mois à 18 ans , 2004 .

[12]  N. Niikawa,et al.  Kabuki make‐up syndrome: A review , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

[13]  V. Proud,et al.  CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review. , 1997, American journal of medical genetics.

[14]  Y. Fukushima,et al.  Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. , 1981, The Journal of pediatrics.

[15]  Y. Kuroki,et al.  A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. , 1981, The Journal of pediatrics.

[16]  M. Deheeger,et al.  [Longitudinal study of anthropometric measurements in Parisian children aged ten months to 18 years]. , 2004, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[17]  An evaluation of infant growth: The use and interpretation of anthropometry , 1995, Bulletin of the World Health Organization.