PTPN11 gene mutation associated with abnormal gonadal determination

Authors

  • Shailly Jain Ghai,

    1. Department of Obstetrics and Gynecology, Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Program, University of Toronto, Toronto, Ontario, Canada
    2. Department of Pediatrics, The Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada
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  • Sarah Keating,

    1. Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
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  • David Chitayat

    Corresponding author
    1. Department of Obstetrics and Gynecology, Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Program, University of Toronto, Toronto, Ontario, Canada
    2. Department of Pediatrics, The Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada
    • Head, Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, The Ontario Power Generation Building 700, University Avenue, Room 3292, M5G 1Z5 Toronto, Ontario, Canada.
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  • How to Cite this Article: Jain Ghai S, Keating S, Chitayat D. 2010. PTPN11 gene mutation associated with abnormal gonadal determination. Am J Med Genet Part A 155:1136–1139.

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. © 2011 Wiley-Liss, Inc.

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