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Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and
Neurogenetic Disorders
#MMPMID29379558
Shakiba M
; Keramatipour M
Iran J Child Neurol
2018[Win]; 12
(1
): 7-15
PMID29379558
show ga
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. 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.
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