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Muscle Nerve. 2016 Oct;54(4):690-5. doi: 10.1002/mus.25094. Epub 2016 Aug 24.

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Author information

1
Division of Pediatric Neurology, University of Florida College of Medicine, PO Box 100296, Gainesville, Florida, USA, 32610.
2
Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt.
3
Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
4
Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts, USA.
5
Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
6
Division of Pediatric Neurology, University of Florida College of Medicine, PO Box 100296, Gainesville, Florida, USA, 32610. pbkang@ufl.edu.
7
Department of Neurology and Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida, USA. pbkang@ufl.edu.

Abstract

INTRODUCTION:

The genetic causes of limb-girdle muscular dystrophy (LGMD) have been studied in numerous countries, but such investigations have been limited in Egypt.

METHODS:

A cohort of 30 families with suspected LGMD from Assiut, Egypt, was studied using immunohistochemistry, homozygosity mapping, Sanger sequencing, and whole exome sequencing.

RESULTS:

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.

CONCLUSIONS:

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.

KEYWORDS:

founder effect; homozygosity mapping; limb-girdle muscular dystrophy; sarcoglycanopathy; whole exome sequencing

PMID:
26934379
PMCID:
PMC5453499
DOI:
10.1002/mus.25094
[Indexed for MEDLINE]
Free PMC Article

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