Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
Biallelic NUP107 variants have been reported in two unrelated female patients presenting with early-onset familial idiopathic steroid-resistant nephrotic syndrome (SRNS). In a cohort of four SRNS cases carrying nucleoporin mutations, two harbored NUP107 alleles predicted to cause premature termination or frameshift truncation (PMID:38650033). All affected individuals presented between 1 and 10.5 years (median 5.08 years) and both NUP107 cases progressed rapidly to end-stage kidney disease by a median age of 7 years, with kidney biopsies demonstrating focal segmental glomerulosclerosis (PMID:38650033).
NUP107 encodes a core component of the nuclear pore complex in podocytes, and biallelic loss-of-function variants are presumed to disrupt nucleo-cytoplasmic transport, leading to podocyte injury and nephrotic syndrome. No segregation beyond the index cases has been reported, and disease-relevant functional assays for NUP107 variants in podocyte models are currently lacking.
Key Take-home: Biallelic truncating NUP107 variants underlie autosomal recessive familial idiopathic SRNS, supporting inclusion of NUP107 in genetic testing panels for early-onset nephrotic syndrome.
Gene–Disease AssociationLimitedTwo unrelated probands with biallelic truncating NUP107 variants; no extended segregation data; single cohort report Genetic EvidenceLimitedTwo probands with predicted loss-of-function variants in NUP107 meet minimal case count for ClinGen evidence Functional EvidenceNo reported evidenceNo disease-relevant functional assays for NUP107 variants in podocyte or renal models |