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TOR1A variants caus...
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor
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- Kariminejad, A. (author)
- Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
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- Dahl-Halvarsson, Martin (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden
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- Ravenscroft, G. (author)
- Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia
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- Afroozan, F. (author)
- Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
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- Keshavarz, E. (author)
- Department of Radiology, Mahdieh Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
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- Goullee, H. (author)
- Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia
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- Davis, M. R. (author)
- Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, Western Australia, Australia
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- Zonooz, M. F. (author)
- Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
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- Najmabadi, H. (author)
- Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
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- Laing, N. G. (author)
- Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia
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- Tajsharghi, Homa (author)
- Högskolan i Skövde,Institutionen för hälsa och lärande,Forskningsspecialiseringen Hälsa och Lärande,Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia,Translationell medicin (TRIM), Translational Medicine
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(creator_code:org_t)
- 2017-09-23
- 2017
- English.
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In: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 140:11, s. 2851-2859
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Autosomal dominant torsion dystonia-1 is a disease with incomplete penetrance most often caused by an in-frame GAG deletion (p.Glu303del) in the endoplasmic reticulum luminal protein torsinA encoded by TOR1A. We report an association of the homozygous dominant disease-causing TOR1A p.Glu303del mutation, and a novel homozygous missense variant (p.Gly318Ser) with a severe arthrogryposis phenotype with developmental delay, strabismus and tremor in three unrelated Iranian families. All parents who were carriers of the TOR1A variant showed no evidence of neurological symptoms or signs, indicating decreased penetrance similar to families with autosomal dominant torsion dystonia-1. The results from cell assays demonstrate that the p.Gly318Ser substitution causes a redistribution of torsinA from the endoplasmic reticulum to the nuclear envelope, similar to the hallmark of the p.Glu303del mutation. Our study highlights that TOR1A mutations should be considered in patients with severe arthrogryposis and further expands the phenotypic spectrum associated with TOR1A mutations.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- TOR1A
- endoplasmic reticulum luminal protein torsinA
- DYT1 dystonia
- TOR1A p.Glu303del
- severe
- dreifuss muscular-dystrophy
- onset torsion dystonia
- lamin a/c gene
- nuclear-envelope
- ashkenazi jews
- dyt1 dystonia
- mutations
- protein
- brain
- classification
- Neurosciences & Neurology
- TOR1A
- Translationell medicin TRIM
Publication and Content Type
- ref (subject category)
- art (subject category)
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Kariminejad, A.
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Dahl-Halvarsson, ...
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Ravenscroft, G.
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Afroozan, F.
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Keshavarz, E.
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Goullee, H.
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show more...
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Davis, M. R.
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Zonooz, M. F.
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Najmabadi, H.
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Laing, N. G.
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Tajsharghi, Homa
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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Brain
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University of Gothenburg
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University of Skövde