A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani

Research output: Contribution to journalArticle

Abstract

We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A > T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather than classic Menkes disease, was found to segregate in the family. The predicted maintenance of transmembrane domains is consistent with a residual protein activity, which may explain the mild clinical presentation.

Original languageEnglish
Pages (from-to)14-17
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume13
DOIs
Publication statusPublished - Dec 1 2017

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Keywords

  • ATP7A late truncation
  • Continuum spectrum disorders
  • Copper transport
  • Limited elbow and shoulder movement
  • Weak grip

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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