Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases
Pediatric Nephrology Aug 25, 2017
Vivante A, et al. – In order to detect whether exome sequencing in Jewish and Arab patients with rhabdomyolysis revealed single–gene etiology in 43% of cases, experts undertook this work. A very high detection rate for monogenic etiologies using Whole exome sequencing (WES) was discovered. Data unearthed broad genetic heterogeneity for rhabdomyolysis. As per the observations, molecular genetic diagnostics were crucial for establishing an etiologic diagnosis. WES permitted adequate prophylaxis and treatment for these patients and their family members and enabled a personalized medicine approach, in view of the risk for recurrent episodes of rhabdomyolysis and subsequent risk for AKI in these subjects.
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