Patent ID: 8221979

Claim:
A method for diagnosing Noonan syndrome in a human subject, comprising amplifying all or part of a RAS-specific guanine nucleotide exchange factor (SOS1) nucleic acid molecule from a biological sample of the subject, and detecting a mutation in the SOS1 nucleic acid molecule, wherein the mutation results in an SOS1 polypeptide comprising an amino acid substitution at a position selected from the group consisting of: (a) a W to R substitution at position 432 of SEQ ID NO:4; (b) an E to K substitution at position 433 of SEQ ID NO:4; and (c) a C to Y substitution at position 441 of SEQ ID NO:4, and wherein the presence of said mutation in said SOS1 nucleic acid molecule is diagnostic of Noonan syndrome in said human subject.