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Use of in Silico Tools for Classification of Novel Missense Mutations Identified in Dystrophin Gene in Developing Countries Publisher Pubmed



Nouri N1 ; Fazelnajafabadi E2 ; Behnam M2 ; Nouri N1 ; Aryani O3 ; Ghasemi M4 ; Nasiri J5 ; Sedghi M1, 2
Authors
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Authors Affiliations
  1. 1. Pediatric Inherited Disease Research Center (PIDRC), Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Department of Genetics, Especial Medical Center, Tehran, Iran
  4. 4. Department of Neurology, Isfahan Neurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  5. 5. Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Gene Published:2014


Abstract

DMD gene which is composed of 79 exons is the largest known gene located on X chromosome (Xp21). Point mutations in the dystrophin gene are responsible for 30-35% of cases with DMD/BMD. Mutation analysis of all the exons of the DMD gene is costly in developing countries, therefore, a few of the exons are selected to be analyzed routinely in clinical laboratories. In this study, direct sequencing was used for detection of point mutations in 10 exons of dystrophin gene in patients affected with DMD without detectable large rearrangements. Freely available programs were used to predict the damaging effects of the mutations. Point mutations were successfully detected in three patients. Three novel mutations, two missense mutations located on nonconservative domains and a single nucleotide deletion, were detected. Missense mutations were predicted to change splicing efficiency. Detection of point mutations by DNA analysis followed by prediction of the pathogenecity by using bioinformatic tool might be an asset to provide proper diagnosis or genetic counseling to patients and their family. © 2013 Elsevier B.V.
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