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Published on: August 25, 2021
PTPN11 gene mutation associated with abnormal gonadal determination.
Shailly Jain Ghai1, Sarah Keating, David Chitayat
1Department of Obstetrics and Gynecology, Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Program, University of Toronto, Ontario, Canada.
American Journal of Medical Genetics. Part A
|April 6, 2011
Summary
The PTPN11 T507K mutation, linked to malignancies, was found in a fetus with hydrops fetalis and ambiguous genitalia. This case highlights a rare presentation of PTPN11 mutations beyond typical Noonan syndrome.
Area of Science:
- Genetics
- Developmental Biology
- Pathology
Background:
- Germline mutations in the PTPN11 gene are associated with Noonan syndrome (NS) and LEOPARD syndrome.
- Both germline and somatic PTPN11 mutations are implicated in various malignancies.
- The specific T507K mutation has been primarily reported in cancers and fetal hydrops, not in live NS patients.
Observation:
- This study details autopsy findings in a fetus with the PTPN11 T507K mutation.
- The fetus presented prenatally with hydrops fetalis and cystic hygroma, with a 46, XX karyotype.
- Autopsy revealed testes and male external genitalia, but notably absent Wolffian ducts.
Findings:
- The PTPN11 T507K mutation was identified in the fetus.
- The fetus exhibited features of intersex, including male external genitalia and testes despite a 46, XX karyotype.
- Absence of Wolffian ducts was a significant finding in the autopsy.
Implications:
- This case expands the phenotypic spectrum associated with PTPN11 mutations.
- It suggests a potential role for PTPN11 mutations in disorders of sex development.
- Further research is needed to understand the mechanism linking PTPN11 T507K to these complex phenotypes.
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