Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p168 | (1) | ICCBH2015

Ambulatory impairment and bone status in subjects with Rett Syndrome: a 10-year longitudinal study

Caffarelli Carla , Pitinca Maria Dea Tomai , Francolini Valentina , Hayek Joussef , Nuti Ranuccio , Gonnelli Stefano

Objective: Low bone mass is a frequent and early complication of subjects with Rett syndrome. As a consequence of the low bone mass Rett girls are at an increased risk of fragility fractures. The frequent occurrence of osteopenia raises questions regarding the direct influence of MECP2 gene mutations on bone growth and attainment of peak bone mass. It is well known that other critical factors such as the use of anticonvulsant drugs, the presence of scoliosis, the nutrition sta...

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...