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

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...

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Autores principales: Bonati, Maria Teresa, Verde, Federico, Hladnik, Uros, Cattelan, Paola, Campana, Luca, Castronovo, Chiara, Ticozzi, Nicola, Maderna, Luca, Colombrita, Claudia, Papa, Sergio, Banfi, Paolo, Silani, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522958/
https://www.ncbi.nlm.nih.gov/pubmed/28761814
http://dx.doi.org/10.1016/j.ymgmr.2017.07.007
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author Bonati, Maria Teresa
Verde, Federico
Hladnik, Uros
Cattelan, Paola
Campana, Luca
Castronovo, Chiara
Ticozzi, Nicola
Maderna, Luca
Colombrita, Claudia
Papa, Sergio
Banfi, Paolo
Silani, Vincenzo
author_facet Bonati, Maria Teresa
Verde, Federico
Hladnik, Uros
Cattelan, Paola
Campana, Luca
Castronovo, Chiara
Ticozzi, Nicola
Maderna, Luca
Colombrita, Claudia
Papa, Sergio
Banfi, Paolo
Silani, Vincenzo
author_sort Bonati, Maria Teresa
collection PubMed
description 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.
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spelling pubmed-55229582017-07-31 A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype Bonati, Maria Teresa Verde, Federico Hladnik, Uros Cattelan, Paola Campana, Luca Castronovo, Chiara Ticozzi, Nicola Maderna, Luca Colombrita, Claudia Papa, Sergio Banfi, Paolo Silani, Vincenzo Mol Genet Metab Rep Short Communication 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. Elsevier 2017-07-21 /pmc/articles/PMC5522958/ /pubmed/28761814 http://dx.doi.org/10.1016/j.ymgmr.2017.07.007 Text en © 2017 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Bonati, Maria Teresa
Verde, Federico
Hladnik, Uros
Cattelan, Paola
Campana, Luca
Castronovo, Chiara
Ticozzi, Nicola
Maderna, Luca
Colombrita, Claudia
Papa, Sergio
Banfi, Paolo
Silani, Vincenzo
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
title A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
title_full A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
title_fullStr A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
title_full_unstemmed A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
title_short A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
title_sort novel nonsense atp7a pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522958/
https://www.ncbi.nlm.nih.gov/pubmed/28761814
http://dx.doi.org/10.1016/j.ymgmr.2017.07.007
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