Isfahan University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Clinical Features in a Large Iranian Family With a Limb-Girdle Congenital Myasthenic Syndrome Due to a Mutation in Dpagt1 Publisher Pubmed



Basiri K1 ; Belaya K3 ; Liu WW3 ; Maxwell S3 ; Sedghi M2 ; Beeson D3
Authors
Show Affiliations
Authors Affiliations
  1. 1. Neurology Department, Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Neurosciences Group, Weatherall Institute of Molecular Medicine, Oxford, The John Radcliffe, United Kingdom

Source: Neuromuscular Disorders Published:2013


Abstract

Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder - congenital disorder of glycosylation type 1J. However, recently it was established that certain mutations in this gene can cause symptoms restricted to muscle weakness resulting from defective neuromuscular transmission. We report four cases from a large Iranian pedigree with prominent limb-girdle weakness and minimal craniobulbar symptoms who harbour a novel mutation in DPAGT1, c.652C>T, p.Arg218Trp. This myasthenic syndrome may mimic myopathic disorders and is likely under-diagnosed. © 2013 Elsevier B.V.
Related Docs
View other Related Docs
1. Mutations in Gmppb Cause Congenital Myasthenic Syndrome and Bridge Myasthenic Disorders With Dystroglycanopathies, Brain (2015)
2. Clinical Features of the Myasthenic Syndrome Arising From Mutations in Gmppb, Journal of Neurology, Neurosurgery and Psychiatry (2016)
3. Detection of Intragenic Smn1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of Smn1, Journal of Child Neurology (2015)
4. Use of in Silico Tools for Classification of Novel Missense Mutations Identified in Dystrophin Gene in Developing Countries, Gene (2014)
5. A Recurrent Homozygous Missense Dpm3 Variant Leads to Muscle and Brain Disease, Clinical Genetics (2022)
6. Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in Myo15a Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees, Lab Medicine (2022)
7. Infantile Neuroaxonal Dystrophy in Two Cases: Siblings With Different Presentations, Iranian Journal of Child Neurology (2022)
8. Griscelli Syndrome Type 1: A Novel Pathogenic Variant, and Review of Literature, Molecular Genetics and Genomics (2023)
Experts (# of related papers)
View all Related Experts
Keivan Basiri (6)
Mohammad Amin Tabatabaiefar (4)
Other Related Docs
9. Whole Exome Sequencing Identified a Novel Lama2 Frameshift Variant Causing Merosin-Deficient Congenital Muscular Dystrophy in a Patient With Cardiomyopathy, and Autism-Like Behavior, Neuromuscular Disorders (2022)
10. Two Novel Mutations in Aldh18a1 and Spg11 Genes Found by Wholeexome Sequencing in Spastic Paraplegia Disease Patients in Iran, Genomics and Informatics (2022)
11. A Novel Missense Mutation in the Gne Gene in an Iranian Patient With Hereditary Inclusion Body Myopathy, Journal of Research in Medical Sciences (2014)
12. On Genotype-Phenotype Relationship of Dystrophinopathies Among Iranian Population, Current Journal of Neurology (2023)
13. A Novel Homozygous Dph1 Mutation Causes Intellectual Disability and Unique Craniofacial Features, Journal of Human Genetics (2018)
14. A New Compound Heterozygous Mutation in Gjb2 Causes Nonsyndromic Hearing Loss in a Consanguineous Iranian Family, International Journal of Pediatric Otorhinolaryngology (2015)
15. Homozygous Tfg Gene Variants Expanding the Mutational and Clinical Spectrum of Hereditary Spastic Paraplegia 57 and a Review of Literature, Journal of Human Genetics (2021)
16. Causative Variants Linked With Limb Girdle Muscular Dystrophy in an Iranian Population: 6 Novel Variants, Molecular Genetics and Genomic Medicine (2023)