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J Med Genet. 2016 Dec;53(12):793-797. doi: 10.1136/jmedgenet-2016-103842. Epub 2016 Apr 26.

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

Author information

1
Istituto Pasteur Italia-Fondazione Cenci Bolognetti, Dipartimento di Biologia e Biotecnologie "Charles Darwin", Sapienza Università di Roma, Italy.

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.

KEYWORDS:

Chromatin organization; Epigenetics; Genetic diseases; SRCAP chromatin-remodelling complex

PMID:
27208210
DOI:
10.1136/jmedgenet-2016-103842
[Indexed for MEDLINE]

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