title: Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.
abstract: Genetic causes of steroid-resistant nephrotic syndrome are being increasingly recognized. Mutations in NPHS2, which encodes the glomerular protein podocin, account for up to 17% of sporadic and 40% of familial cases, where they display an autosomal-recessive pattern of inheritance. This report describes a non-consanguineous family with three generations of individuals who are either compound heterozygotes for mutations in NPHS2 or who have inherited a mutation and a non-neutral polymorphism (R229Q). As well as providing an aetiological explanation, identifying pathogenic mutations and considering genotype-phenotype correlations can provide prognostic information and lead to changes in genetic counselling and management.
authors: Department of Clinical Genetics , Leicester Royal Infirmary, University Hospitals of Leicester , Leicester , UK.
authors: Vani
authors: V
authors: Jain
authors: Department of Nephrology , Leicester General Hospital, University Hospitals of Leicester , Leicester , UK.
authors: John
authors: J
authors: Feehally
authors: Department of Clinical Genetics , Leicester Royal Infirmary, University Hospitals of Leicester , Leicester , UK.
authors: Gabriela
authors: G
authors: Jones
authors: Department of Clinical Genetics , Leicester Royal Infirmary, University Hospitals of Leicester , Leicester , UK.
authors: Lisa
authors: L
authors: Robertson
authors: Department of Clinical Genetics , Leicester Royal Infirmary, University Hospitals of Leicester , Leicester , UK.
authors: Dheepa
authors: D
authors: Nair
authors: Department of Clinical Genetics , Leicester Royal Infirmary, University Hospitals of Leicester , Leicester , UK.
authors: Pradeep
authors: P
authors: Vasudevan
keywords: NPHS2; focal segmental glomerulosclerosis; podocin; steroid-resistant nephrotic syndrome