his.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor
Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden.
Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia.
Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
Show others and affiliations
2017 (English)In: Brain, ISSN 0006-8950, E-ISSN 1460-2156Article in journal (Refereed) Epub ahead of print
Abstract [en]

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. 

Place, publisher, year, edition, pages
2017.
Keyword [en]
TOR1A, endoplasmic reticulum luminal protein torsinA, DYT1 dystonia, TOR1A p.Glu303del, severe arthrogryposis
Research subject
Translational Medicine TRIM
Identifiers
URN: urn:nbn:se:his:diva-14154DOI: 10.1093/brain/awx230OAI: oai:DiVA.org:his-14154DiVA: diva2:1143997
Funder
EU, FP7, Seventh Framework Programme, 608473MoRe Research, 608473Swedish Research Council
Available from: 2017-09-25 Created: 2017-09-25 Last updated: 2017-10-02

Open Access in DiVA

No full text

Other links

Publisher's full text

Search in DiVA

By author/editor
Tajsharghi, Homa
By organisation
School of Health and EducationHealth and Education
In the same journal
Brain

Search outside of DiVA

GoogleGoogle Scholar

Altmetric score

Total: 36 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf