RT Journal Article SR Electronic T1 When chromatin organisation floats astray: the Srcap gene and Floating–Harbor syndrome JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 793 OP 797 DO 10.1136/jmedgenet-2016-103842 VO 53 IS 12 A1 Messina, Giovanni A1 Atterrato, Maria Teresa A1 Dimitri, Patrizio YR 2016 UL http://jmg.bmj.com/content/53/12/793.abstract AB 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.