CC2D2A GENE MUTATION ASSOCIATED WITH JOUBERT SYNDROME AND DIAGNOSTIC METHODS FOR IDENTIFYING THE SAME

摘要

PROBLEM TO BE SOLVED: To provide a method of screening a subject for mutations in CC2D2A genes that are associated with Joubert syndrome, an autosomal recessive form of mental retardation.SOLUTION: The present invention provides proteins that are associated with Joubert syndrome including proteins that include an amino acid sequence comprising DHEGGSGMES (SEQ ID NO: 1). Also provided are nucleotide sequences encoding the proteins and a method of screening subjects to identify nucleotide sequences or proteins associated with Joubert syndrome.