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Pregled bibliografske jedinice broj: 1152450

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 et al.
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 // Genetics in medicine, 20 (2018), 42-54 doi:10.1038/gim.2017.70 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1152450 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
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

Autori
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

Izvornik
Genetics in medicine (1098-3600) 20 (2018); 42-54

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
diagnostic criteria, FKBP14, FKBP22, kyphoscoliotic Ehlers-Danlos syndrome, mutations

Sažetak
PurposeIn 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.MethodsWe 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.ResultsBased 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.ConclusionOur data further support the extensive clinical overlap with PLOD1- kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
KBC Split,
Medicinski fakultet, Split

Profili:

Avatar Url Bernarda Lozić (autor)

Poveznice na cjeloviti tekst rada:

doi www.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti et al.
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 // Genetics in medicine, 20 (2018), 42-54 doi:10.1038/gim.2017.70 (međunarodna recenzija, članak, znanstveni)
Giunta, C., Baumann, M., Fauth, C., Lindert, U., Abdalla, E., Brady, A., Collins, J., Dastgir, J., Donkervoort, S. & Ghali, N. (2018) 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. Genetics in medicine, 20, 42-54 doi:10.1038/gim.2017.70.
@article{article, author = {Giunta, Cecilia and Baumann, Matthias and Fauth, Christine and Lindert, Uschi and Abdalla, Ebtesam M and Brady, Angela F and Collins, James and Dastgir, Jahannaz and Donkervoort, Sandra and Ghali, Neeti and Johnson, Diana S and Kariminejad, Ariana and Koch, Johannes and Kraenzlin, Marius and Lahiri, Nayana and Lozic, Bernarda and Manzur, Adnan Y and Morton, Jenny E V and Pilch, Jacek and Pollitt, Rebecca C and Schreiber, Gudrun and Shannon, Nora L and Sobey, Glenda and Vandersteen, Anthony and van Dijk, Fleur S and Witsch- Baumgartner, Martina and Zschocke, Johannes and Pope, F Michael and B\"{o}nnemann, Carsten G and Rohrbach, Marianne}, year = {2018}, pages = {42-54}, DOI = {10.1038/gim.2017.70}, keywords = {diagnostic criteria, FKBP14, FKBP22, kyphoscoliotic Ehlers-Danlos syndrome, mutations}, journal = {Genetics in medicine}, doi = {10.1038/gim.2017.70}, volume = {20}, issn = {1098-3600}, 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}, keyword = {diagnostic criteria, FKBP14, FKBP22, kyphoscoliotic Ehlers-Danlos syndrome, mutations} }
@article{article, author = {Giunta, Cecilia and Baumann, Matthias and Fauth, Christine and Lindert, Uschi and Abdalla, Ebtesam M and Brady, Angela F and Collins, James and Dastgir, Jahannaz and Donkervoort, Sandra and Ghali, Neeti and Johnson, Diana S and Kariminejad, Ariana and Koch, Johannes and Kraenzlin, Marius and Lahiri, Nayana and Lozic, Bernarda and Manzur, Adnan Y and Morton, Jenny E V and Pilch, Jacek and Pollitt, Rebecca C and Schreiber, Gudrun and Shannon, Nora L and Sobey, Glenda and Vandersteen, Anthony and van Dijk, Fleur S and Witsch- Baumgartner, Martina and Zschocke, Johannes and Pope, F Michael and B\"{o}nnemann, Carsten G and Rohrbach, Marianne}, year = {2018}, pages = {42-54}, DOI = {10.1038/gim.2017.70}, keywords = {diagnostic criteria, FKBP14, FKBP22, kyphoscoliotic Ehlers-Danlos syndrome, mutations}, journal = {Genetics in medicine}, doi = {10.1038/gim.2017.70}, volume = {20}, issn = {1098-3600}, 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}, keyword = {diagnostic criteria, FKBP14, FKBP22, kyphoscoliotic Ehlers-Danlos syndrome, mutations} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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