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.
Claims10
1-25. (canceled)
A method for diagnosing or identifying an individual at risk for developing focal segmental glomerulosclerosis (FSGS), the method comprising:
- a) obtaining a sample comprising an Inverted Formin 2 (INF2) protein from an individual;
- b) detecting the presence of a mutation in the INF2 protein in the sample;
- c) selecting an individual who has a mutation in the INF2 protein, thereby diagnosing or identifying an individual who is at risk for developing FSGS;
- and
- d) administering a treatment for FSGS to the individual.
A method of preparing a sample from a subject suspected of having a risk for developing focal segmental glomerulosclerosis (FSGS), the method comprising:
- a) enriching the sample for inverted formin 2 (INF2) proteins and variants thereof by contacting the sample with an anti-INF2 antibody;
- and
- b) detecting one or more INF2 variants, wherein an INF2 variant comprises (i) the amino acid sequence of SEQ ID NO:
- 20 comprising one or more mutations selected from L42P, E184K, S186P, L198R, R214H, R218Q, R218W, and E220K;
- (ii) the amino acid of SEQ ID NO:
- 11 comprising a mutation in at least one amino acid position corresponding to a position selected from the group consisting of 42, 184, 186, 198, 214, 218, and 220 of SEQ ID NO:
- 11;
- or (iii) a fragment of an INF2 protein comprising the amino acid sequence of SEQ ID NO:
- 11, wherein the fragment comprises one or more mutations at amino acid positions 42, 184, 186, 198, 214, 218, and 220 of SEQ ID NO:
- 11.
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 (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.
Dependencies are inferred from the claim text.