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Article

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

BMC medical genetics - 31 Jan 2020

Caffarelli Carla, Gonnelli Stefano, Pitinca Maria Dea Tomai, Camarri Silvia, Al Refaie Antonella, Hayek Joussef, Nuti Ranuccio

Abstract excerpt

BACKGROUND: More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the disease severity in affected individuals can be quite variable. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is...

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Identifiers

PMID: 32005172
DOI: 10.1186/s12881-020-0960-2
PMCID: PMC6995101

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