• PMID: 2023927
• Gene Name: AMH
• Condition: Persistent Müllerian duct syndrome (PMDS)
• Association: Case report: To characterize a 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.
• Mutation: 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
• Population size: 3
• Population details: 3 siblings with Persistent Müllerian duct syndrome (PMDS)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Persistent Müllerian duct syndrome (PMDS)

Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome

Knebelmann B, Boussin L, Guerrier D, Legeai L, Kahn A, Josso N, Picard JY.

The persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian 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-Müllerian 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. FAU - Knebelmann, B AU - Knebelmann B AD - Unité de Recherches en Génétique et Pathologie Moléculaires, Institut National de la Santé et de la Recherche Médicale Unité U129, Institut Cochin de Génétique Moléculaire, Paris, France. FAU - Boussin, L AU - Boussin L FAU - Guerrier, D AU - Guerrier D FAU - Legeai, L AU - Legeai L FAU - Kahn, A AU - Kahn A FAU - Josso, N AU - Josso N