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...

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Published inJournal of the Formosan Medical Association Vol. 106; no. 2; pp. 169 - 172
Main Authors Hung, Chia-Sui, Lin, Ju-Li, Lee, Yann-Jinn, Lin, Shuan-Pei, Chao, Mei-Chyn, Lo, Fu-Sung
Format Journal Article
LanguageEnglish
Published Elsevier B.V 2007
Elsevier
Subjects
Internal Medicine
mutation analysis
Noonan syndrome
PTPN11
SHP-2
PTPN11
SHP-2
mutation analysis
Noonan syndrome
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Summary: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. [ J Formos Med Assoc 2007;106(2):169-172]
ISSN:0929-6646
DOI:10.1016/S0929-6646(09)60235-7