Methods and primers for diagnosing idiopathic congenital central hypoventilation syndrome

Abstract

The present invention provides assays and kits for diagnosing idiopathic congenital central hypoventilation syndrome. The present assays and kits focus on the second polyalanine repeat of the PHOX2b gene or gene product, which is normally 20 residues in length. A polyalanine repeat 25 to 33 residues in length is strongly correlated with idiopathic congenital central hypoventilation syndrome.

1 . A primer set for amplifying the second polyalanine repeat of a PHOX2b gene or gene product of a subject to diagnose or confirm idiopathic congenital central hypoventilation syndrome (CCHS), comprising:
 (a) a forward primer selected from the group consisting of SEQ ID 4, SEQ ID 6, SEQ ID 8, and SEQ ID 10; and   (b) a reverse primer selected from the group consisting of SEQ ID 5, SEQ ID 7, SEQ ID 9, and SEQ ID 11.   
     
     
         2 . The primer set of  claim 1  wherein the primer set amplifies an expansion mutation in a PHOX2b gene or gene product. 
     
     
         3 . A kit for performing an amplification of a polyalanine repeat in a PHOX2b gene or gene product comprising: instructions for performing amplification; and primers capable of amplifying a polyalanine repeat in a PHOX2b gene or gene product. 
     
     
         4 . A fragment of the PHOX2b gene that is amplified by the set of primers designated by SEQ ID NOS: 4 and 5. 
     
     
         5 . Polymerase chain reaction products resulting from amplification of the PHOX2b gene by primers designated by SEQ ID NO: 4 and 5 or functional equivalents thereof. 
     
     
         6 . A forward and a reverse primer designated by SEQ ID NOS: 4 and 5 or functional equivalents thereof.