| Autor: |
Chia-Sui Hung, Ju-Li Lin, Yann-Jinn Lee, Shuan-Pei Lin, Mei-Chyn Chao, Fu-Sung Lo |
| Jazyk: |
angličtina |
| Rok vydání: |
2007 |
| Předmět: |
|
| Zdroj: |
Journal of the Formosan Medical Association, Vol 106, Iss 2, Pp 169-172 (2007) |
| Druh dokumentu: |
article |
| ISSN: |
0929-6646 |
| DOI: |
10.1016/S0929-6646(09)60235-7 |
| Popis: |
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] |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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