1. Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change
- Author
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Abbas, Tafakhori, Alvin, Yu Jin Ng, Sumanty, Tohari, Byrappa, Venkatesh, Hane, Lee, Ascia, Eskin, Stanley F, Nelson, Carine, Bonnard, Bruno, Reversade, and Ariana, Kariminejad
- Subjects
Adult ,Male ,Ophthalmoplegia, Chronic Progressive External ,Muscle Weakness ,Genotyping Techniques ,Mental Disorders ,DNA Mutational Analysis ,DNA Helicases ,Mutation, Missense ,Iran ,Middle Aged ,Dysphonia ,Pedigree ,Mitochondrial Proteins ,Young Adult ,Humans ,Exome ,Female ,Deglutition Disorders - Abstract
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.We have studied a large Iranian family with myopathy, dysphonia, dysphagia, and behavior change in addition to PEO in affected members.We identified a missense mutation c.1121GA 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.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.
- Published
- 2016