PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning

被引：0
作者：
Els Schollen
Gert Matthijs
Marc Gewillig
Jean-Pierre Fryns
Eric Legius
机构：
[1] University Hospitals,Department of Human Genetics
[2] University Hospitals,Department of Pediatric Cardiology
来源：
European Journal of Human Genetics | 2003年 / 11卷
关键词：
Noonan syndrome; cardio-facio-cutaneous syndrome; DHPLC;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Noonan syndrome (NS, MIM 163950) is an autosomal dominant condition characterised by facial dysmorphy, congenital cardiac defects and short stature. Recently missense mutations in PTPN11, the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2 on 12q24, were identified in 50% of analysed Noonan cases. A large four-generation Belgian family with NS and some features suggestive of cardio-facio-cutaneous syndrome (CFC) was previously used to fine map the Noonan syndrome candidate region to a 5 cM region in 12q24. We now report the identification of a mutation (Gln79Arg) in the PTPN11 gene in this large family. In D. melanogaster and C. elegans the PTPN11 gene has been implicated in oogenesis. In this family two affected females had dizygous twins. This suggests that PTPN11 might also be involved in oogenesis and twinning in humans.
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页码：85 / 88
页数：3
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