Floating–Harbor syndrome (FHS) is a rare human disease characterised by delayed bone mineralisation and growth deficiency, often associated with mental retardation and skeletal and craniofacial abnormalities. FHS was first described at Boston's Floating Hospital 42 years ago, but the causative gene, called Srcap, was identified only recently. Truncated SRCAP protein variants have been implicated in the mechanism of FHS, but the molecular bases underlying the disease must still be elucidated and investigating the molecular defects leading to the onset of FHS remains a challenge. Here we comprehensively review recent work and provide alterative hypotheses to explain how the Srcap truncating mutations lead to the onset of FHS.
- Genetic diseases
- Chromatin organization
- SRCAP chromatin-remodelling complex
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Contributors PD is the leader of the group, he wrote the review article. GM and MTA are actually working on the molecular bases of the Floating–Harbor syndrome.
Funding Grant from Istituto Pasteur Italia- Fondazione Cenci Bolognetti; grant from Ministero Università e Ricerca, Progetti Universitari, Sapienza Università di Roma.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.