Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders

Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders Publisher

Shakiba M¹ ; Keramatipour M²

Show Affiliations

1. Department of Pediatric Endocrinology and Metabolism, Mofid Childrenâ€™s hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Child Neurology Published:2018

Abstract

Objective Inborn errors of metabolism are complex disorders with huge variability in clinical manifestations. Decreasing cost of whole exome sequencing (WES) in recent years, made it affordable. Therefore, we witnessed an increase in using WES in diagnosis of genetic diseases, including inherited metabolic disorders. Materials & Methods A systematic search was done in well-known databases including Medline, Google, Cochrane, and PubMed until 1 Oct 2017. We reviewed the articles addressing the use of WES in diagnosis of metabolic and neurogenetic diseases to evaluate its impact in diagnosis of these conditions. Results WES is an effective technology with remarkable impact in diagnosis of metabolic and neurologic diseases, especially in complex cases. Diagnostic yield of WES for these conditions has large variety, ranging from 16% to 68% with an increase during recent years. WES can provide fresh valuable information about new disease, new variants and phenotypes. Careful analysis and interpretation of data obtained by WES and precise evaluation of correlation between clinical manifestation and WES findings are necessary to achieve a correct diagnosis. Conclusion WES is effective and useful technology for diagnosis of metabolic and neurogenetic diseases, especially in complex or unsolved cases. © 2018, Iranian Child Neurology Society. All rights reserved.

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Style	Citing Format
MLA	Shakiba M, Keramatipour M. "Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders." Iranian Journal of Child Neurology, vol. 12, no. 1, 2018, pp. 7-15.
APA	Shakiba M, Keramatipour M (2018). Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders. Iranian Journal of Child Neurology, 12(1), 7-15.
Chicago	Shakiba M, Keramatipour M. "Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders." Iranian Journal of Child Neurology 12, no. 1 (2018): 7-15.
Harvard	Shakiba M, Keramatipour M (2018) 'Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders', Iranian Journal of Child Neurology, 12(1), pp. 7-15.
Vancouver	Shakiba M, Keramatipour M. Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders. Iranian Journal of Child Neurology. 2018;12(1):7-15.
BibTex	@article{ author = {Shakiba M and Keramatipour M}, title = {Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders}, journal = {Iranian Journal of Child Neurology}, volume = {12}, number = {1}, pages = {7-15}, year = {2018} }
RIS	TY - JOUR AU - Shakiba M AU - Keramatipour M TI - Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders JO - Iranian Journal of Child Neurology VL - 12 IS - 1 SP - 7 EP - 15 PY - 2018 ER -

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