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Mutation in Twinkle in a Large Iranian Family With Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change Pubmed



Tafakhori A1 ; Yu Jin Ng A2 ; Tohari S2 ; Venkatesh B2 ; Lee H3 ; Eskin A3 ; Nelson SF3 ; Bonnard C4 ; Reversade B2, 4 ; Kariminejad A5
Authors
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Authors Affiliations
  1. 1. Iranian Center of Neurological Research, Neurology department, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore
  3. 3. Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, United States
  4. 4. Institute of Medical Biology, A*STAR, Singapore, Singapore
  5. 5. Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran

Source: Archives of Iranian Medicine Published:2016


Abstract

Background: TWINKLE (c10orf2) gene is responsible for autosomal dominant progressive external ophthalmoplegia (PEO). In rare cases, additional features such as muscle weakness, peripheral neuropathy, ataxia, cardiomyopathy, dysphagia, dysphonia, cataracts, depression, dementia, parkinsonism, and hearing loss have been reported in association with heterozygous mutations of the TWINKLE gene. Methods: We have studied a large Iranian family with myopathy, dysphonia, dysphagia, and behavior change in addition to PEO in affected members. Results: We identified a missense mutation C.1121G > A in the c10orf2 gene in all affected members. Early death is a novel feature seen in affected members of this family that has not been reported to date. Conclusion: The association of PEO, myopathy, dysphonia, dysphagia, behavior change and early death has not been previously reported in the literature or other patients with this mutation. © 2016, Academy of Medical Sciences of I.R. Iran, INIA. All rights reserved.
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