PTPN11 gene mutation associated with abnormal gonadal determination
Copyright policy )PTPN11 gene mutation associated with abnormal gonadal determination
AbstractGermline mutations in thePTPN11gene 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, theT507Kmutation in thePTPN11gene, 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 theT507Kmutation 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. © 2011 Wiley‐Liss, Inc.
- Hospital for Sick Children Canada
- Mount Sinai Hospital Canada
- University of Toronto Canada
Adult, Karyotyping, Mutation, Humans, Female, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Genitalia, Female
Adult, Karyotyping, Mutation, Humans, Female, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Genitalia, Female
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