MP031THE MUTATION-DEPENDENT PATHOGENICITY OF THE NPHS2 R229Q VARIANT
نویسندگان
چکیده
منابع مشابه
Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation
BACKGROUND Mutations in podocin (NPHS2) are the most common cause of childhood onset autosomal recessive steroid-resistant nephrotic syndrome (SRNS). The disease is characterized by early-onset proteinuria, resistance to immunosuppressive therapy and rapid progression to end-stage renal disease. Compound heterozygous changes involving the podocin variant R229Q combined with another pathogenic m...
متن کاملR229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome
Background. The polymorphism R229Q is one of the most commonly reported podocin sequence variations among steroid-resistant nephrotic syndromes (SRNS). Aim of the Study. We investigated the frequency and risk of this polymorphism among a group of Iraqi children with SRNS and steroid-sensitive nephrotic syndrome (SSNS). Patients and Methods. A prospective case control study which was conducted i...
متن کاملChildhood Nephrotic Syndrome Response to Steroid Therapy and the Relationship to Nphs2 Gene Mutation: a Multicenter Study in Saudi Arabia
Background: Nephrotic syndrome (NS) is an expression of many glomerular diseases and not a disease in itself. Based on response to steroids, NS is categorized into steroid-sensitive nephrotic syndrome (SSNS) or steroid-resistant nephrotic syndrome (SRNS). SRNS patients are at a high risk of developing end-stage renal disease. The aim of the study was to evaluate steroid response and the prevale...
متن کاملRecessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.
Recessive NPHS2 (podocin) mutations account for up to approximately 30% of steroid-resistant idiopathic FSGS in children and are associated with a reduced risk for disease recurrence after renal transplantation. R229Q, a missense variant that is present in 3.6% of the white population, has been implicated as a common disease-causing mutation. Given these clinical implications, we examined the r...
متن کاملR229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study.
INTRODUCTION Depending on the response to standard steroid therapy, nephrotic syndrome it is classified to steroid-sensitive and steroid-resistant nephrotic syndrome (SRNS). Mutations in several genes including NPHS2 have been implicated in SRNS. Gene R229Q polymorphism (p.R229Q) of NPHS2 is associated with adolescent- or adult-onset SRNS in European and South American populations. We investiga...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2016
ISSN: 1460-2385,0931-0509
DOI: 10.1093/ndt/gfw182.01