Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
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.
Hung
Chia-Sui
CS
Division of Pediatric Endocrinology, Chang Gung Children's Hospital, Taoyuan, Taiwan.
Lin
Ju-Li
JL
Lee
Yann-Jinn
YJ
Lin
Shuan-Pei
SP
Chao
Mei-Chyn
MC
Lo
Fu-Sung
FS
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
D017027:Protein Tyrosine Phosphatases