کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2814665 | 1569545 | 2007 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Mild variable Noonan syndrome in a family with a novel PTPN11 mutation Mild variable Noonan syndrome in a family with a novel PTPN11 mutation](/preview/png/2814665.png)
Noonan syndrome (OMIM 163950) is a common genetic condition with variable clinical expression and genetic heterogeneity. About half of the cases can be accounted to activating mutations in the PTPN11 gene encoding SHP-2. We report on a family with mild, variable expression of Noonan syndrome in five individuals. Clinical manifestations included short stature, craniofacial anomalies and thorax deformity, but none of the affected family members had a heart defect. Sequencing of the entire coding region of PTPN11 revealed a novel mutation c.1226G→C in exon 11 predicting the amino acid exchange G409A. This mutation is not located in the previously known mutation clusters. Our observation and the recent report of a mutation affecting a neighbouring residue (T411M) in a family with a variable phenotype suggest that mutations in this particular region of SHP-2 may have effects on the protein that differ from those of the classical mutations.
Journal: European Journal of Medical Genetics - Volume 50, Issue 1, January–February 2007, Pages 43–47