Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

S Lovric, H Fang, V Vega-Warner… - Clinical Journal of the …, 2014 - journals.lww.com
Results The pilot study identified the genetic cause of disease in 42 of 48 (87.5%) of the
affected individuals. The diagnostic study detected the genetic cause of disease in 16 of 48
(33%) of the affected individuals with a previously unknown cause of SRNS. Seven novel
disease-causing mutations in PLCE1 (n= 5), NPHS1 (n= 1), and LAMB2 (n= 1) were
identified in< 3 weeks. Use of this method could reduce costs to 1/29th of the cost of Sanger
sequencing. Conclusion This highly parallel approach allows rapid (< 3 weeks) mutation …