US 11,674,177 B2
Kelch domain containing 7B (KLHDC7B) variants and uses thereof
Kavita Praveen, Tarrytown, NY (US); Giovanni Coppola, Tarrytown, NY (US); Manuel Allen Revez Ferreira, Tarrytown, NY (US); Lauren Gurski, Tarrytown, NY (US); Aris Baras, Tarrytown, NY (US); Meghan Drummond Samuelson, Tarrytown, NY (US); and Goncalo Abecasis, Tarrytown, NY (US)
Assigned to Regeneron Pharmaceuticals, Inc., Tarrytown, NY (US)
Filed by Regeneron Pharmaceuticals, Inc., Tarrytown, NY (US)
Filed on May 4, 2021, as Appl. No. 17/307,653.
Claims priority of provisional application 63/087,245, filed on Oct. 4, 2020.
Claims priority of provisional application 63/020,746, filed on May 6, 2020.
Prior Publication US 2021/0348228 A1, Nov. 11, 2021
Int. Cl. C12Q 1/68 (2018.01); C12Q 1/6874 (2018.01); C12Q 1/6851 (2018.01); C12Q 1/6876 (2018.01); G01N 33/68 (2006.01); A61K 38/00 (2006.01)
CPC C12Q 1/6874 (2013.01) [C12Q 1/6851 (2013.01); C12Q 1/6876 (2013.01); G01N 33/6818 (2013.01); A61K 38/00 (2013.01); C12Q 2600/118 (2013.01); C12Q 2600/158 (2013.01)] 10 Claims
OG exemplary drawing
 
1. A method of treating a subject with a therapeutic agent that treats or inhibits hearing loss, wherein the subject has hearing loss, the method comprising the steps of:
determining whether the subject has a Kelch Domain Containing 7B (KLHDC7B) missense variant nucleic acid molecule encoding a KLHDC7B predicted loss-of-function polypeptide by:
obtaining or having obtained a biological sample from the subject; and
performing or having performed a sequence analysis on the biological sample to determine if the subject has a genotype comprising the KLHDC7B missense variant nucleic acid molecule encoding the KLHDC7B predicted loss-of-function polypeptide; and
administering or continuing to administer the therapeutic agent that treats or inhibits hearing loss in a standard dosage amount to a subject that is KLHDC7B reference; and
administering or continuing to administer the therapeutic agent that treats or inhibits hearing loss in an amount that is the same as or greater than a standard dosage amount to a subject that is heterozygous or homozygous for the KLHDC7B missense variant nucleic acid molecule;
wherein the presence of a genotype having the KLHDC7B missense variant nucleic acid molecule encoding the KLHDC7B predicted loss-of-function polypeptide indicates the subject has an increased risk of developing hearing loss, wherein the KLHDC7B missense variant nucleic acid molecule encodes KLHDC7B K181fs or KLHDC7B G302fs.