title: Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
abstract: Noonan syndrome (NS) is an autosomal dominant disorder presenting with characteristic facies, short stature, skeletal anomalies, and congenital heart defects. Mutations in protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11), encoding SHP-2, account for 33-50% of NS. This study screened for mutations in the PTPN11 gene in 34 Taiwanese patients with NS. Mutation analysis of the 15 coding exons and exon/intron boundaries was performed by polymerase chain reaction and direct sequencing of the PTPN11 gene. We identified 10 different missense mutations in 13 (38%) patients, including a novel missense mutation (855T>G, F285L). These mutations were clustered in exon 3 (n = 6) encoding the N-SH2 domain, exon 4 (n = 2) encoding the C-SH2 domain, and in exons 8 (n = 2) and 13 (n = 3) encoding the PTP domain. In conclusion, this study provides further support that PTPN11 mutations are responsible for Noonan syndrome in Taiwanese patients.
authors.affiliation: Division of Pediatric Endocrinology, Chang Gung Children's Hospital, Taoyuan, Taiwan.
authors.forename: Chia-Sui
authors.initials: CS
authors.lastname: Hung
authors.forename: Ju-Li
authors.initials: JL
authors.lastname: Lin
authors.forename: Yann-Jinn
authors.initials: YJ
authors.lastname: Lee
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Mei-Chyn
authors.initials: MC
authors.lastname: Chao
authors.forename: Fu-Sung
authors.initials: FS
authors.lastname: Lo
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D013624:Taiwan
chemical_list: D017027:Protein Tyrosine Phosphatases