title: Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.
abstract: Mutations in plectin, a widely expressed giant cytolinker protein can lead to different diseases mostly with signs of muscular dystrophy (MD) and skin blistering. The only report of plectin-related disease without skin involvement is limb-girdle muscular dystrophy type 2Q (LGMD2Q) phenotype, showing early-onset limb-girdle muscular dystrophy symptoms with progressive manner and no cranial muscle involvement. Here, we report a non-consanguineous Iranian family with two affected sisters showing progressive limb and ocular muscle weakness. Whole Exome Sequencing (WES) led to identification of a compound heterozygous mutations, p.Gln1022Ter (c.3064C>T) and p.Gly3835Ser (c.11503G>A), in PLEC gene. To the best of our knowledge, this would be the first report of a patient with LGMD and myasthenic symptoms without any skin involvement, caused by plectinopathy. This observation extends the phenotypic spectrum of PLEC related diseases and suggests a variable expression of the PLEC- related symptoms.
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran. hnajm12@yahoo.com.
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Fattahi
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.affiliation: Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shahriar
authors.initials: S
authors.lastname: Nafissi
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Fadaee
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Seyedeh Sedigheh
authors.initials: SS
authors.lastname: Abedini
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
authors.affiliation: Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, ON, Canada.
authors.forename: Mohammad R
authors.initials: MR
authors.lastname: Akbari
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D003680:Deglutition Disorders / Q000235:genetics*; D005260:Female; D006801:Humans; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics*; D010375:Pedigree; D051190:Plectin / Q000235:genetics*; D035781:Siblings; D013577:Syndrome
chemical_list: C495332:PLEC protein, human; D051190:Plectin