Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p118 | (1) | ICCBH2019

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

Caffarelli Carla , Dea Tomai Pitinca Maria , Francolini Valentina , Canitano Roberto , De felice Claudio , Hayek Joussef , Gonnelli Stefano

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...