Patent ID: 8808992

Claim:
A method for detecting the presence of a SHOC2 mutation associated with Noonan-like syndrome with loose anagen hair in a human subject, comprising: (a) determining the sequence of all or a portion of a SHOC2 nucleic acid in a biological sample collected from the subject, wherein the sequence of all or a portion of the SHOC2 nucleic acid is determined by carrying out a method selected from the group consisting of microarray-based sequencing, denaturing HPLC (DHPLC), Denaturing Gradient Gel Electrophoresis (DGGE), Single Strand Conformation Polymorphism (SSCP), HOT cleavage, direct capture-based method, next generation sequencing, exome sequencing, solution or solid-phase hybridization, whole genome sequencing, hybridization, and PCR amplification of a single specified genomic region; (b) comparing the SHOC2 nucleic acid sequence in the biological sample from the subject to a nucleic acid sequence encoding a wild-type human SHOC2 protein or comparing the protein sequence encoded by the SHOC2 nucleic acid sequence in the biological sample from the subject to a wild-type human SHOC2 protein sequence; and (c) determining that a mutation associated with Noonan-like syndrome with loose anagen hair is present in the subject, when the SHOC2 nucleic acid sequence in the biological sample from the subject encodes a mutant SHOC2 protein comprising glycine (Gly) at position 2 of the SHOC2 protein sequence.