title: PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
abstract: 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.
authors.affiliation: Department of Human Genetics, University Hospitals Leuven, Belgium.
authors.forename: Els
authors.initials: E
authors.lastname: Schollen
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Marc
authors.initials: M
authors.lastname: Gewillig
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Eric
authors.initials: E
authors.lastname: Legius
mesh_terms: D001530:Belgium; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000235:genetics*; D010375:Pedigree; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D014429:Twins, Dizygotic
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases