TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

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Kariminejad, A.Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran (author)

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

Article/chapterEnglish2017

Publisher, publication year, extent ...

2017-09-23
Oxford University Press (OUP),2017

Numbers

LIBRIS-ID:oai:gup.ub.gu.se/260333
https://gup.ub.gu.se/publication/260333URI
https://doi.org/10.1093/brain/awx230DOI
https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-14154URI

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Language:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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 and genre

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
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

Added entries (persons, corporate bodies, meetings, titles ...)

Dahl-Halvarsson, MartinGothenburg 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(Swepub:gu)xdmart (author)
Ravenscroft, G.Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia (author)
Afroozan, F.Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran (author)
Keshavarz, E.Department of Radiology, Mahdieh Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran (author)
Goullee, H.Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia (author)
Davis, M. R.Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, Western Australia, Australia (author)
Zonooz, M. F.Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran (author)
Najmabadi, H.Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran (author)
Laing, N. G.Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia (author)
Tajsharghi, HomaHögskolan 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(Swepub:his)tajh (author)
Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, IranInstitutionen för biomedicin, avdelningen för patologi (creator_code:org_t)

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In:Brain: Oxford University Press (OUP)140:11, s. 2851-28590006-89501460-2156

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By the author/editor: Kariminejad, A.; Dahl-Halvarsson, ...; Ravenscroft, G.; Afroozan, F.; Keshavarz, E.; Goullee, H.; show more...; Davis, M. R.; Zonooz, M. F.; Najmabadi, H.; Laing, N. G.; Tajsharghi, Homa; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Neurosciences

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