title: Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Iranian Center of Neurological Research, Neurology Department, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Abbas
authors.initials: A
authors.lastname: Tafakhori
authors.affiliation: Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
authors.forename: Alvin
authors.initials: A
authors.lastname: Yu Jin Ng
authors.affiliation: Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
authors.forename: Sumanty
authors.initials: S
authors.lastname: Tohari
authors.affiliation: Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
authors.forename: Byrappa
authors.initials: B
authors.lastname: Venkatesh
authors.affiliation: Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA.
authors.forename: Hane
authors.initials: H
authors.lastname: Lee
authors.affiliation: Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA.
authors.forename: Ascia
authors.initials: A
authors.lastname: Eskin
authors.affiliation: Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA.
authors.forename: Stanley F
authors.initials: SF
authors.lastname: Nelson
authors.affiliation: Institute of Medical Biology, A*STAR, Singapore, Singapore.
authors.forename: Carine
authors.initials: C
authors.lastname: Bonnard
authors.affiliation: 2)Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore. 4)Institute of Medical Biology, A*STAR, Singapore, Singapore.
authors.forename: Bruno
authors.initials: B
authors.lastname: Reversade
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran Iran.
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
mesh_terms: D000328:Adult; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D003680:Deglutition Disorders / Q000150:complications / Q000235:genetics*; D055154:Dysphonia / Q000150:complications / Q000235:genetics*; D059472:Exome; D005260:Female; D060005:Genotyping Techniques; D006801:Humans; D007492:Iran; D008297:Male; D001523:Mental Disorders / Q000150:complications / Q000235:genetics*; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000150:complications / Q000235:genetics*; D020125:Mutation, Missense; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D024101:Mitochondrial Proteins; D004265:DNA Helicases; C431576:TWNK protein, human