Methods for diagnosing and assessing risk of developing glomerulosclerosis

摘要

This document features method related to variants in the Inverted Formin 2 (INF2) gene that are susceptibility to focal segmental glomerulosclerosis (FSGS). For example, methods of using such variants for risk assessment and for diagnosing and optimizing treatment of FSGS are provided.

主权项

1. A method of detecting a mutation in an Inverted Formin 2 (INF2) nucleic acid, comprising:
a) contacting an INF2 nucleic acid in a sample from a human individual with a detectably labeled oligonucleotide that specifically binds under high stringency conditions to an INF2 nucleic acid having the sequence of SEQ ID NO: 21 comprising a mutation in (i) at least one codon selected from the group consisting of codons 42, 184, 186, 198, 214, 218, and 220, or (ii) at least one nucleotide position corresponding to a position selected from the group consisting of 736, 795, 784, 699, 693, 796, 801, and 268 of SEQ ID NO:21; and b) detecting hybridization of the oligonucleotide to the INF2 nucleic acid, wherein detecting hybridization is indicative of the presence of a mutation in the INF2 nucleic acid.