Methods for assessing risk for cardiac dysrythmia in a human subject

Abstract

The present invention relates to methods for assessing the risk of a patient for developing a potentially fatal cardiac dysrhythmia and for diagnosing Andersen's Syndrome. A tissue sample from a patient is obtained and the DNA or proteins of the sample isolated. From the DNA and protein isolates the sequence of the KCNJ2 gene or the Kir2.1 polypeptide can be obtained. The KCNJ2 gene or the Kir2.1 can be screened for alteration as compared to the wile-type sequence. An alteration in a copy of the KCNJ2 gene or a Kir2.1 polypeptide indicates that the patient has a high risk for developing a cardiac dysrhythmia and can be diagnosed with Andersen's Syndrome. The invention also related to isolated nucleic acid molecules with one or more alterations as compared to the wild-type sequence.

1 . A method of assessing a risk in a human subject for cardiac dysrhythmia comprising: screening for an alteration in a copy of the KCNJ2 gene of the human subject, wherein an alteration in a copy of the KCNJ2 gene of the human subject indicates a risk for cardiac dysrhythmia in the human subject. 
     
     
         2 - 6 . (canceled) 
     
     
         7 . The method of  claim 1 , wherein the step of screening for an alteration in a copy of the KCNJ2 gene comprises detecting an alteration in a Kir2.1 polypeptide of the human subject, wherein an alteration in a Kir2.1 polypeptide of the human subject indicates an alteration in a copy of the KCNJ2 gene of the human subject. 
     
     
         8 . The method of  claim 1 , wherein the alteration in the in the copy of the KCNJ2 gene of the human subject, is a mutation in the KCNJ2 gene selected from the group consisting of a missense mutation, a deletion, an in-frame deletion, and an insertion. 
     
     
         9 . A method of diagnosing Andersen's Syndrome in a human subject comprising: screening for an alteration in a copy of the KCNJ2 gene of the human subject, wherein the detection of said alteration in a copy of the KCNJ2 gene of the human subject indicates that a positive diagnosis for Andersen's Syndrome. 
     
     
         10 - 14 . (canceled) 
     
     
         15 . The method of  claim 9 , wherein the screening for an alteration in a copy of the KCNJ2 gene comprises detecting an alteration in a Kir2.1 polypeptide of the human subject, wherein an alteration in a Kir2.1 polypeptide of the human subject indicates an alteration in a copy of the KCNJ2 gene of the human subject. 
     
     
         16 . The method of  claim 9 , wherein the alteration in the in the copy of the KCNJ2 gene of the human subject, is a mutation in the KCNJ2 gene selected from the group consisting of a missense mutation, a deletion, an in-frame deletion, and an insertion. 
     
     
         17 - 22 . (canceled) 
     
     
         23 . A method of assessing a risk for human subject for sudden infant death comprising: screening for an alteration in a copy of the KCNJ2 gene of the human subject, wherein an alteration in a copy of the KCNJ2 gene of the human subject indicates a risk for sudden infant death in the human subject. 
     
     
         24 .- 28 . (canceled) 
     
     
         29 . The method of  claim 23 , wherein the step of screening for an alteration in a copy of the KCNJ2 gene comprises detecting an alteration in a Kir2.1 polypeptide of the human subject, wherein an alteration in a Kir2.1 polypeptide of the human subject indicates an alteration in a copy of the KCNJ2 gene of the human subject. 
     
     
         30 . The method of  claim 23 , wherein the alteration in the in the copy of the KCNJ2 gene of the human subject, is a mutation in the KCNJ2 gene selected from the group consisting of a missense mutation, a deletion, an in-frame deletion, and an insertion.