Patent ID: 7335469

Claim:
A method for diagnosing Noonan syndrome in a human subject, said method comprising the step of detecting a mutation in a protein tyrosine phosphatase 11 (PTPN11) nucleic acid molecule of SEQ ID NO: 1 from said subject, wherein said mutation results in an amino acid substitution in a PTPN11 protein tyrosine phosphatase (PTP) domain, and wherein said amino acid substitution is selected from the group consisting of: (a) a Y to C substitution at position 279 of SEQ ID NO: 2; (b) an I to V substitution at position 282 of SEQ ID NO:2; (c) an F to L substitution at position 285 of SEQ ID NO:2; (d) an F to S substitution at position 285 of SEQ ID NO:2; (e) an N to D substitution at position 308 of SEQ ID NO:2; (f) an N to S substitution at position 308 of SEQ ID NO:2; (g) an I to V substitution at position 309 of SEQ ID NO:2; (h) an R to K substitution at position 501 of SEQ ID NO:2; and (i) an M to V substitution at position 504 of SEQ ID NO:2, wherein the presence of said mutation in said protein tyrosine phosphatase 11 (PTPN11) nucleic acid molecule is diagnostic of Noonan syndrome in said human subject.