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A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

PURPOSE: In 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers–Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective...

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Autores principales: Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763155/
https://www.ncbi.nlm.nih.gov/pubmed/28617417
http://dx.doi.org/10.1038/gim.2017.70
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author Giunta, Cecilia
Baumann, Matthias
Fauth, Christine
Lindert, Uschi
Abdalla, Ebtesam M
Brady, Angela F
Collins, James
Dastgir, Jahannaz
Donkervoort, Sandra
Ghali, Neeti
Johnson, Diana S
Kariminejad, Ariana
Koch, Johannes
Kraenzlin, Marius
Lahiri, Nayana
Lozic, Bernarda
Manzur, Adnan Y
Morton, Jenny E V
Pilch, Jacek
Pollitt, Rebecca C
Schreiber, Gudrun
Shannon, Nora L
Sobey, Glenda
Vandersteen, Anthony
van Dijk, Fleur S
Witsch-Baumgartner, Martina
Zschocke, Johannes
Pope, F Michael
Bönnemann, Carsten G
Rohrbach, Marianne
author_facet Giunta, Cecilia
Baumann, Matthias
Fauth, Christine
Lindert, Uschi
Abdalla, Ebtesam M
Brady, Angela F
Collins, James
Dastgir, Jahannaz
Donkervoort, Sandra
Ghali, Neeti
Johnson, Diana S
Kariminejad, Ariana
Koch, Johannes
Kraenzlin, Marius
Lahiri, Nayana
Lozic, Bernarda
Manzur, Adnan Y
Morton, Jenny E V
Pilch, Jacek
Pollitt, Rebecca C
Schreiber, Gudrun
Shannon, Nora L
Sobey, Glenda
Vandersteen, Anthony
van Dijk, Fleur S
Witsch-Baumgartner, Martina
Zschocke, Johannes
Pope, F Michael
Bönnemann, Carsten G
Rohrbach, Marianne
author_sort Giunta, Cecilia
collection PubMed
description PURPOSE: In 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers–Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis–trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date. METHODS: We report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data. RESULTS: Based on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals. CONCLUSION: Our data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS.
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spelling pubmed-57631552018-02-02 A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history Giunta, Cecilia Baumann, Matthias Fauth, Christine Lindert, Uschi Abdalla, Ebtesam M Brady, Angela F Collins, James Dastgir, Jahannaz Donkervoort, Sandra Ghali, Neeti Johnson, Diana S Kariminejad, Ariana Koch, Johannes Kraenzlin, Marius Lahiri, Nayana Lozic, Bernarda Manzur, Adnan Y Morton, Jenny E V Pilch, Jacek Pollitt, Rebecca C Schreiber, Gudrun Shannon, Nora L Sobey, Glenda Vandersteen, Anthony van Dijk, Fleur S Witsch-Baumgartner, Martina Zschocke, Johannes Pope, F Michael Bönnemann, Carsten G Rohrbach, Marianne Genet Med Original Research Article PURPOSE: In 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers–Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis–trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date. METHODS: We report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data. RESULTS: Based on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals. CONCLUSION: Our data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS. Nature Publishing Group 2018-01 2017-06-15 /pmc/articles/PMC5763155/ /pubmed/28617417 http://dx.doi.org/10.1038/gim.2017.70 Text en Copyright © 2018 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Original Research Article
Giunta, Cecilia
Baumann, Matthias
Fauth, Christine
Lindert, Uschi
Abdalla, Ebtesam M
Brady, Angela F
Collins, James
Dastgir, Jahannaz
Donkervoort, Sandra
Ghali, Neeti
Johnson, Diana S
Kariminejad, Ariana
Koch, Johannes
Kraenzlin, Marius
Lahiri, Nayana
Lozic, Bernarda
Manzur, Adnan Y
Morton, Jenny E V
Pilch, Jacek
Pollitt, Rebecca C
Schreiber, Gudrun
Shannon, Nora L
Sobey, Glenda
Vandersteen, Anthony
van Dijk, Fleur S
Witsch-Baumgartner, Martina
Zschocke, Johannes
Pope, F Michael
Bönnemann, Carsten G
Rohrbach, Marianne
A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
title A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
title_full A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
title_fullStr A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
title_full_unstemmed A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
title_short A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
title_sort cohort of 17 patients with kyphoscoliotic ehlers–danlos syndrome caused by biallelic mutations in fkbp14: expansion of the clinical and mutational spectrum and description of the natural history
topic Original Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763155/
https://www.ncbi.nlm.nih.gov/pubmed/28617417
http://dx.doi.org/10.1038/gim.2017.70
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