Allelic disorders caused by mutations in trpv4
AssigneeNorthwestern University
InventorsTeepu Siddique, Han-Xiang Deng, Jianhua Yan
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Abstract
The present invention provides methods, kits, and compositions for detecting mutations in transient receptor potential cation channel, subfamily V, member 4 (TRPV4). In particular, mutations are detected in TRPV4 to detect diseases such as scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC) or Charcot-Marie-Tooth disease type 2C (CMT2C).
Claims15
A method of detecting a disease in a subject comprising exposing a subject sample to a detection reagent and detecting the presence of mutations in TRPV4 in said sample, thereby detecting disease, wherein said disease is a TRPV4 peripheral neuropathy and bony displasia.
A method for identifying a subject as a carrier of TRPV4 peripheral neuropathy and bony displasia, comprising detecting the presence of at least one mutation in TRPV4 in a sample from said subject.
A composition comprising a nucleic acid detection assay configured to identify at least one mutation selected from TRPV4-R269H and TRPV4-R316C, wherein said nucleic acid detection assay comprises at least one oligonucleotide and at least one enzyme.
Dependencies are inferred from the claim text.