Genetics and variation in phenotype in Noonan syndrome.

Marjolijn Jongmans, Barto Otten, Kees Noordam, Ineke van der Burgt

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

32 Citaten (Scopus)


Noonan syndrome is a well-known clinical entity comprising multiple congenital anomalies characterized by typical facial features, short stature and congenital heart defect. Approximately 50% of cases are sporadic. Familial cases are generally autosomal dominant. In 2001 a gene responsible for Noonan syndrome, PTPN11, encoding for the non-receptor protein tyrosine phosphatase SHP-2, was identified. Mutation analysis of the PTPN11 gene was carried out in Nijmegen in 150 patients with Noonan syndrome. Mutations were found in 68 patients (45%), the most common being A922G in exon 8. In exon 4 a mutation was found that encoded the C-SH2 domain of the PTPN11 gene in two unique patients who shared some uncommon features. A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia. 2004 S. Karger AG, Basel.

Originele taal-2Engels
Pagina's (van-tot)56-59
Aantal pagina's4
TijdschriftHormone Research
Volume62 Suppl 3
StatusGepubliceerd - 2004
Extern gepubliceerdJa


Duik in de onderzoeksthema's van 'Genetics and variation in phenotype in Noonan syndrome.'. Samen vormen ze een unieke vingerafdruk.

Citeer dit