Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome
HJ McCarthy, A Bierzynska, M Wherlock… - Clinical Journal of the …, 2013 - journals.lww.com
Results Analysis revealed known and novel disease-associated variations in expected
genes such as NPHS1, NPHS2, and PLCe1 in 19% of patients. Phenotypically unexpected
mutations were also detected in COQ2 and COL4A4 in two patients with isolated
nephropathy and associated sensorineural deafness, respectively. The presence of an
additional heterozygous polymorphism in WT1 in a patient with NPHS1 mutation was
associated with earlier-onset disease, supporting modification of phenotype through genetic …
genes such as NPHS1, NPHS2, and PLCe1 in 19% of patients. Phenotypically unexpected
mutations were also detected in COQ2 and COL4A4 in two patients with isolated
nephropathy and associated sensorineural deafness, respectively. The presence of an
additional heterozygous polymorphism in WT1 in a patient with NPHS1 mutation was
associated with earlier-onset disease, supporting modification of phenotype through genetic …