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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.
Vise andre og tillknytning
2017 (engelsk)Inngår i: Brain, ISSN 0006-8950, E-ISSN 1460-2156, Vol. 140, nr 11, s. 2851-2859Artikkel i tidsskrift (Fagfellevurdert) Published
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. 

sted, utgiver, år, opplag, sider
Oxford University Press, 2017. Vol. 140, nr 11, s. 2851-2859
Emneord [en]
TOR1A, endoplasmic reticulum luminal protein torsinA, DYT1 dystonia, TOR1A p.Glu303del, severe arthrogryposis
HSV kategori
Forskningsprogram
Translationell medicin TRIM
Identifikatorer
URN: urn:nbn:se:his:diva-14154DOI: 10.1093/brain/awx230ISI: 000414357800017PubMedID: 29053766Scopus ID: 2-s2.0-85034765470OAI: oai:DiVA.org:his-14154DiVA, id: diva2:1143997
Forskningsfinansiär
EU, FP7, Seventh Framework Programme, 608473MoRe Research, 608473Swedish Research CouncilTilgjengelig fra: 2017-09-25 Laget: 2017-09-25 Sist oppdatert: 2018-02-27bibliografisk kontrollert

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