title: High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
abstract: BACKGROUND
  Noonan syndrome (NS, OMIM 163950) is a relatively common autosomal dominant disorder and has significant phenotypic overlap with Costello Syndrome and cardio-facio-cutaneous syndrome. Molecular diagnosis is useful for differential diagnosis. PTPN11 gene mutation is the most common mutation associated with NS and hence is a suitable target for molecular diagnostics.
  
  
  METHODS
  High resolution melting (HRM) analysis was used for screening of PTPN11 mutations. Eleven DNA samples with 10 known PTPN11 mutations were used for HRM calibration. Said calibrations were then applied to mutation screening of a panel of 50 additional NS patients.
  
  
  RESULTS
  HRM analysis differentiated all of the 10 known mutations and identified 9 additional mutations from 10 patients in the blind study, which is in line with results obtained by sequencing.
  
  
  CONCLUSIONS
  HRM analysis is a rapid, reliable, and low-cost tool for detection of PTPN11 genetic variants.
authors.affiliation: Division of Pediatric Endocrinology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
authors.forename: Fu-Sung
authors.initials: FS
authors.lastname: Lo
authors.forename: Ji-Dung
authors.initials: JD
authors.lastname: Luo
authors.forename: Yann-Jinn
authors.initials: YJ
authors.lastname: Lee
authors.forename: San-Ging
authors.initials: SG
authors.lastname: Shu
authors.forename: Min-Tzu
authors.initials: MT
authors.lastname: Kuo
authors.forename: Chiuan-Chian
authors.initials: CC
authors.lastname: Chiou
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D006801:Humans; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D009691:Nucleic Acid Denaturation; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*; D013997:Time Factors
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11