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: Zohreh Fattahi, Kimia Kahrizi, Shahriar Nafissi, Mahsa Fadaee, Seyedeh Sedigheh Abedini, Ariana Kariminejad, Mohammad R Akbari, Hossein Najmabadi
• Journal: Archives of Iranian medicine (Arch Iran Med) Vol. 18 Issue 1 Pg. 60-4 (Jan 2015) ISSN: 1735-3947 [Electronic] Iran
• PMID: 25556389 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• PLEC protein, human
• Plectin

Topics

• Adult
• Blepharoptosis (genetics)
• Deglutition Disorders (genetics)
• Female
• Humans
• Muscular Dystrophies, Limb-Girdle (genetics)
• Ophthalmoplegia (genetics)
• Pedigree
• Plectin (genetics)
• Siblings
• Syndrome