Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
作者信息
Tafakhori Abbas, Yu Jin Ng Alvin, Tohari Sumanty, Venkatesh Byrappa, Lee Hane, Eskin Ascia, Nelson Stanley F, Bonnard Carine, Reversade Bruno, Kariminejad Ariana
机构信息
Iranian Center of Neurological Research, Neurology Department, Tehran University of Medical Sciences, Tehran, Iran.
Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
出版信息
Arch Iran Med. 2016 Feb;19(2):87-91.
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.
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