| First Author | Knebelmann B | Year | 1991 |
| Journal | Proc Natl Acad Sci U S A | Volume | 88 |
| Issue | 9 | Pages | 3767-71 |
| PubMed ID | 2023927 | Mgi Jnum | J:48913 |
| Mgi Id | MGI:1276047 | Doi | 10.1073/pnas.88.9.3767 |
| Citation | Knebelmann B, et al. (1991) Anti-Mullerian hormone Bruxelles: a nonsense mutation associated with the persistent Mullerian duct syndrome. Proc Natl Acad Sci U S A 88(9):3767-71 |
| abstractText | The persistent Mullerian duct syndrome (PMDS) is characterized by the persistence of Mullerian derivatives, uterus and tubes, in otherwise normally virilized males. In a previous study, we showed that this syndrome is heterogeneous, with lack of production of anti-Mullerian hormone (AMH) by testicular tissue accounting for only some, AMH-negative, cases of this disorder. We have characterized the point mutation responsible for an AMH-negative PMDS in three siblings: a guanine to thymine transversion at position 2096 in the fifth exon changes a GAA triplet, coding for glutamic acid, to a TAA stop codon. The mutation could also be recognized, using the polymerase chain reaction, on RNA produced in trace amounts by a lymphoblastic cell line. The translation product, although undetectable in testicular tissue, could be visualized in culture medium of cells transfected with the mutant gene. |
