Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome.

Carla CaffarelliStefano GonnelliMaria Dea Tomai PitincaSilvia CamarriAntonella Al RefaieJoussef HayekRanuccio Nuti

Published in: BMC medical genetics (2020)

This study confirms that MECP2 mutation type is a strong predictor of disease severity in subjects with Rett syndrome. In particular, the subjects with more severe mutation present a greater deterioration of bone status, and a higher prevalence of scoliosis and inability to walk.

Keyphrases

binding protein
bone mineral density
dna methylation
risk factors
soft tissue
early onset
bone regeneration
gene expression