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.

When chromatin organization floats astray: the Srcap gene and the Floating Harbor syndrome / Messina, Giovanni; Atterrato, Maria Teresa; Dimitri, Patrizio. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - STAMPA. - 53:(2016), pp. 793-797. [10.1136/jmedgenet-2016-103842]

When chromatin organization floats astray: the Srcap gene and the Floating Harbor syndrome.

MESSINA, GIOVANNI;DIMITRI, Patrizio
2016

Abstract

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.
2016
epigenetics; human genetic diseases; floating harbor syndrome
01 Pubblicazione su rivista::01a Articolo in rivista
When chromatin organization floats astray: the Srcap gene and the Floating Harbor syndrome / Messina, Giovanni; Atterrato, Maria Teresa; Dimitri, Patrizio. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - STAMPA. - 53:(2016), pp. 793-797. [10.1136/jmedgenet-2016-103842]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/894516
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