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.
PTPN11 gene mutation associated with abnormal gonadal determination†
Article first published online: 4 APR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 5, pages 1136–1139, May 2011
How to Cite
Jain Ghai, S., Keating, S. and Chitayat, D. (2011), PTPN11 gene mutation associated with abnormal gonadal determination. Am. J. Med. Genet., 155: 1136–1139. doi: 10.1002/ajmg.a.33873
- Issue published online: 19 APR 2011
- Article first published online: 4 APR 2011
- Manuscript Accepted: 21 NOV 2010
- Manuscript Received: 14 JUN 2010
- ambiguous genitalia;
- hydrops fetalis;
- noonan syndrome;
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.