Growth pattern in Kabuki syndrome with a KMT2D mutation

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Kabuki syndrome is a genetic disorder characterized by multiple congenital malformations and developmental delays.
• Short stature is a common clinical feature, but detailed growth data in genetically confirmed cases are lacking.
• Understanding growth patterns is crucial for managing patients with Kabuki syndrome.

Purpose of the Study:

• To analyze growth data in patients with Kabuki syndrome and a confirmed KMT2D gene mutation.
• To identify specific growth patterns, including postnatal growth, childhood growth deflection, and pubertal growth spurts.
• To explore potential genotype-phenotype correlations related to growth.

Main Methods:

• Retrospective growth data collection from referring clinicians for 39 Kabuki syndrome patients.
• Inclusion criteria: genetically confirmed Kabuki syndrome and no growth-influencing treatments.
• Analysis of growth trajectories, including postnatal growth, childhood growth, and pubertal growth spurt.

Main Results:

• Postnatal growth retardation was observed in all 39 subjects.
• All patients exhibited growth deflection during childhood.
• A diminished pubertal growth spurt was a consistent finding across the cohort.
• No genotype-phenotype correlation was identified regarding growth parameters.

Conclusions:

• Postnatal growth retardation and altered pubertal growth are significant features of Kabuki syndrome in patients with KMT2D mutations.
• Further research is needed to investigate the role of the growth hormone/IGF-I axis and estrogen receptor in the observed growth retardation.
• These findings highlight the need for specialized growth monitoring in Kabuki syndrome patients.