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Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour.
- Source :
-
European Journal of Pediatrics . Oct2007, Vol. 166 Issue 10, p1083-1085. 3p. 1 Graph. - Publication Year :
- 2007
-
Abstract
- <bold>Introduction: </bold>An ovarian Sertoli cell tumour was detected in a 4-year-old girl with gonadotrophin-independent precocious puberty. Such gonadal tumours can be associated with Peutz-Jeghers syndrome, caused by mutations in the STK11 gene. We have therefore sequenced the STK11 gene.<bold>Results: </bold>Mutation analysis revealed a nonsense mutation in exon 1 (c.130A>T;p.Lys44X) of the SKT11 gene, which resulted in a truncated, inactive protein. The mutation was heterozygous in patient's lymphocytes and almost homozygous in the tumour, indicating loss of heterozygosity.<bold>Conclusion: </bold>This is the first report of a STK11 germline mutation in a girl with an ovarian Sertoli cell tumour. It remains to be shown whether this particular mutation predisposes the patient to the development of ovarian tumours. [ABSTRACT FROM AUTHOR]
- Subjects :
- *SERTOLI cell tumors
*OVARIES
*PUBERTY
*GONADOTROPIN
*PEUTZ-Jeghers syndrome
*COMPARATIVE studies
*LUTEINIZING hormone releasing hormone
*RESEARCH methodology
*MEDICAL cooperation
*GENETIC mutation
*OVARIAN tumors
*PRECOCIOUS puberty
*RESEARCH
*TRANSFERASES
*GENITALIA tumors
*EVALUATION research
*GENETIC carriers
*SEQUENCE analysis
Subjects
Details
- Language :
- English
- ISSN :
- 03406199
- Volume :
- 166
- Issue :
- 10
- Database :
- Academic Search Index
- Journal :
- European Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 26340299
- Full Text :
- https://doi.org/10.1007/s00431-006-0352-4