Floating–Harbor syndrome (FHS) is a rare human diseasecharacterised by delayed bone mineralisation and growthdeficiency, often associated with mental retardation andskeletal and craniofacial abnormalities. FHS was firstdescribed at Boston’s Floating Hospital 42 years ago, butthe causative gene, called Srcap, was identified onlyrecently. Truncated SRCAP protein variants have beenimplicated in the mechanism of FHS, but the molecularbases underlying the disease must still be elucidated andinvestigating the molecular defects leading to the onsetof FHS remains a challenge. Here we comprehensivelyreview recent work and provide alterative hypotheses toexplain how the Srcap truncating mutations lead to theonset of FHS.
When chromatin organization floats astray: the Srcap gene and the Floating Harbor syndrome
MESSINA, GIOVANNI
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2016-01-01
Abstract
Floating–Harbor syndrome (FHS) is a rare human diseasecharacterised by delayed bone mineralisation and growthdeficiency, often associated with mental retardation andskeletal and craniofacial abnormalities. FHS was firstdescribed at Boston’s Floating Hospital 42 years ago, butthe causative gene, called Srcap, was identified onlyrecently. Truncated SRCAP protein variants have beenimplicated in the mechanism of FHS, but the molecularbases underlying the disease must still be elucidated andinvestigating the molecular defects leading to the onsetof FHS remains a challenge. Here we comprehensivelyreview recent work and provide alterative hypotheses toexplain how the Srcap truncating mutations lead to theonset of FHS.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
