title: Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
abstract: The genetic causes of limb-girdle muscular dystrophy (LGMD) have been studied in numerous countries, but such investigations have been limited in Egypt.
  
  
  
  A cohort of 30 families with suspected LGMD from Assiut, Egypt, was studied using immunohistochemistry, homozygosity mapping, Sanger sequencing, and whole exome sequencing.
  
  
  
  Six families were confirmed to have pathogenic mutations, 4 in SGCA and 2 in DMD. Of these, 3 families harbored a single nonsense mutation in SGCA, suggesting that this may be a common mutation in Assiut, Egypt, originating from a founder effect.
  
  
  
  The Assiut region in Egypt appears to share at least several of the common LGMD genes found in other parts of the world. It is notable that 4 of the 6 mutations were ascertained by means of whole exome sequencing, even though it was the last approach adopted. This illustrates the power of this technique for identifying causative mutations for muscular dystrophies. Muscle Nerve 54: 690-695, 2016.
authors.affiliation: Division of Pediatric Neurology, University of Florida College of Medicine, PO Box 100296, Gainesville, Florida, USA, 32610.
authors.forename: Hemakumar M
authors.initials: HM
authors.lastname: Reddy
authors.affiliation: Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt.
authors.forename: Sherifa A
authors.initials: SA
authors.lastname: Hamed
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.|Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts, USA.
authors.forename: Monkol
authors.initials: M
authors.lastname: Lek
authors.affiliation: Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Satomi
authors.initials: S
authors.lastname: Mitsuhashi
authors.affiliation: Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Elicia
authors.initials: E
authors.lastname: Estrella
authors.affiliation: Division of Pediatric Neurology, University of Florida College of Medicine, PO Box 100296, Gainesville, Florida, USA, 32610.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Jones
authors.affiliation: Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Lane J
authors.initials: LJ
authors.lastname: Mahoney
authors.affiliation: Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Anna R
authors.initials: AR
authors.lastname: Duncan
authors.affiliation: Division of Pediatric Neurology, University of Florida College of Medicine, PO Box 100296, Gainesville, Florida, USA, 32610.
authors.forename: Kyung-Ah
authors.initials: KA
authors.lastname: Cho
authors.affiliation: Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.|Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts, USA.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Macarthur
authors.affiliation: Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Louis M
authors.initials: LM
authors.lastname: Kunkel
authors.affiliation: Division of Pediatric Neurology, University of Florida College of Medicine, PO Box 100296, Gainesville, Florida, USA, 32610. pbkang@ufl.edu.|Department of Neurology and Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida, USA. pbkang@ufl.edu.
authors.forename: Peter B
authors.initials: PB
authors.lastname: Kang
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics*; D004534:Egypt / Q000453:epidemiology; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D010375:Pedigree; D049031:Sarcoglycans / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C526571:SGCA protein, human; D049031:Sarcoglycans
keywords: founder effect; homozygosity mapping; limb-girdle muscular dystrophy; sarcoglycanopathy; whole exome sequencing