Methods for diagnosing and assessing risk of developing glomerulosclerosis
AssigneesThe Brigham and Women's Hospital, Inc., Children's Medical Center Corporation
InventorsMartin Pollak, Elizabeth J. Brown, Johannes Schlondorff
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Abstract
This document features method related to variants in the Inverted Formin 2 (INF2) gene that are associated with 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.
Claims12
A method of preparing a sample from a subject suspected of having a risk for developing focal segmental glomerulosclerosis (FSGS), the method comprising enriching the sample for inverted formin 2 (INF2) nucleic acid molecules by contacting the sample with a detectably labeled oligonucleotide that specifically binds to an INF2 nucleic acid having the sequence of SEQ ID NO:
- 21 comprising a mutation in 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,
- wherein the detectably labeled oligonucleotide comprises a sequence having at least 15 consecutive nucleotides of the sequence of the INF2 nucleic acid or a complementary sequence thereof, and
- wherein the sequence of the detectably labeled oligonucleotide comprises the mutation.
Dependencies are inferred from the claim text.