# US 12,110,553 B2 · Methods for diagnosing and assessing risk of developing glomerulosclerosis

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- Number: US 12,110,553 B2
- Document ID: US12110553B2
- Status: Granted
- Kind: B2
- Application number: 17/113,957
- Filed: 2020-12-07
- Published: 2021-07-01
- Granted: 2024-10-08
- Earliest claimed: 2009-12-07
- Assignees: The Brigham and Women's Hospital, Inc.; Children's Medical Center Corporation
- Applicants: The Brigham and Women's Hospital, Inc.; Children's Medical Center Corporation
- Inventors: Martin Pollak; Elizabeth J. Brown; Johannes Schlondorff
- Web page: https://patentgrep.com/patent/US12110553B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- C12Q 1/68: involving nucleic acids
- C12Q 1/6811: Selection methods for production or design of target specific oligonucleotides or binding molecules
- C12Q 1/6813: Hybridisation assays
- C12Q 1/6816: characterised by the detection means (C12Q1/6804 takes precedence)
- C12Q 1/6827: for detection of mutation or polymorphism
- C12Q 1/6876: Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- G01N 33/6854: {Immunoglobulins}
- G01N 33/6893: {related to diseases not provided for elsewhere}
- C12Q 1/6886: for cancer (immunoassay for cancer G01N33/575)
- C12Q 2600/106: Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
- C12Q 2600/118: Prognosis of disease development
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/158: Expression markers
- C12Q 2600/16: Primer sets for multiplex assays
- G01N 2800/347: Renal failures; Glomerular diseases; Tubulointerstitial diseases, e.g. nephritic syndrome, glomerulonephritis; Renovascular diseases, e.g. renal artery occlusion, nephropathy
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- G01N: INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES (measuring or testing apparatus or processes other than immunoassay, involving enzymes or microorganisms C12M, C12Q)

## 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.

## Claims

### Claim 1

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.

### Claim 2 (depends on 1)

The method of claim 1, wherein the mutation in the INF2 sequence comprises a missense mutation in the INF2 coding sequence.

### Claim 3 (depends on 1)

The method of claim 1, wherein the mutation in the INF2 sequence results in a nonconservative amino acid substitution in the resulting protein sequence.

### Claim 4 (depends on 1)

The method of claim 1, wherein the mutation changes an amino acid in the diaphanous inhibitory domain (DID) of INF2.

### Claim 5 (depends on 1)

The method of claim 1, wherein the detectably labeled oligonucleotide is directly labeled.

### Claim 6 (depends on 5)

The method of claim 5, wherein the detectably labeled oligonucleotide is directly labeled with a fluorophore.

### Claim 7 (depends on 1)

The method of claim 1, wherein the detectably labeled oligonucleotide is indirectly labeled.

### Claim 8 (depends on 1)

The method of claim 1, wherein the detectably labeled oligonucleotide is fixed to a solid support.

### Claim 9 (depends on 1)

The method of claim 1, wherein the detectably labeled oligonucleotide is 15-1000 nucleotides long.

### Claim 10 (depends on 1)

The method of claim 1, wherein the detectably labeled oligonucleotide is 15-200 nucleotides long.

### Claim 11 (depends on 1)

The method of claim 1, wherein the detectably labeled oligonucleotide is 15-50 nucleotides long.

### Claim 12 (depends on 1)

The method of claim 1, wherein the detectably labeled oligonucleotide comprises a sequence selected from any one of SEQ ID NOs: 1 to 8, wherein n of SEQ ID NO: 1 is g; n of SEQ ID NO: 2 is t; n of SEQ ID NO: 3 is a; n of SEQ ID NO: 4 is c; n of SEQ ID NO: 5 is a; n of SEQ ID NO: 6 is a; n of SEQ ID NO: 7 is a; and n of SEQ ID NO: 8 is c.