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PTPN11 gene mutation associated with abnormal gonadal determination
Author(s) -
Jain Ghai Shailly,
Keating Sarah,
Chitayat David
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33873
Subject(s) - ptpn11 , hydrops fetalis , noonan syndrome , germline mutation , germline , mutation , biology , germline mosaicism , autopsy , fetus , genetics , somatic cell , gene , pathology , medicine , kras , pregnancy
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.