title: PTPN11 gene mutation associated with abnormal gonadal determination.
abstract: Germline mutations in the PTPN11 gene have been associated with Noonan syndrome (NS) and LEOPARD syndrome. Both germline and somatic mutations in this gene have been reported in association with malignancies. However, the T507K mutation in the PTPN11 gene, has only been reported in malignancies and in a fetus with hydrops fetalis but not in a live patient with NS. We report the autopsy findings in a fetus with the T507K mutation who presented prenatally with hydrops fetalis, cystic hygroma and 46, XX karyotype. On autopsy, the patient was found to have testes, male external genitalia, but absent Wolffian ducts.
authors.affiliation: Department of Obstetrics and Gynecology, Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Program, University of Toronto, Ontario, Canada.
authors.forename: Shailly
authors.initials: S
authors.lastname: Jain Ghai
authors.forename: Sarah
authors.initials: S
authors.lastname: Keating
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D000328:Adult; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11