Germline mutation in the <Emphasis Type="Italic">STK11</Emphasis> gene in a girl with an ovarian Sertoli cell tumour |
| |
Authors: | Guy Massa Nele Roggen Marleen Renard Johan J P Gille |
| |
Institution: | (1) Department of Paediatrics, Virga Jesseziekenhuis, Stadsomvaart 11, 3500 Hasselt, Belgium;(2) Department of Paediatric Oncology, University Hospital Gasthuisberg, Leuven, Belgium;(3) Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands |
| |
Abstract: | Introduction 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.
Results 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.
Conclusion 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. |
| |
Keywords: | Gonadotrophin independent precocious puberty Ovarian tumour Peutz-Jeghers syndrome Sertoli cell tumour STK11 gene |
本文献已被 PubMed SpringerLink 等数据库收录! |
|