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When chromatin organisation floats astray: the Srcap gene and Floating–Harbor syndrome
  1. Giovanni Messina,
  2. Maria Teresa Atterrato,
  3. Patrizio Dimitri
  1. Istituto Pasteur Italia-Fondazione Cenci Bolognetti, Dipartimento di Biologia e Biotecnologie “Charles Darwin”, Sapienza Università di Roma, Italy
  1. Correspondence to Professor Patrizio Dimitri, Istituto Pasteur Italia-Fondazione Cenci Bolognetti, Dipartimento di Biologia e Biotecnologie “Charles Darwin”, Sapienza Università di Roma Via dei Sardi 70, Roma 00185, Italy; patrizio.dimitri{at}uniroma1.it

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.

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

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