title: Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.
abstract: 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.
authors.affiliation: 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.
authors.forename: B
authors.initials: B
authors.lastname: Knebelmann
authors.forename: L
authors.initials: L
authors.lastname: Boussin
authors.forename: D
authors.initials: D
authors.lastname: Guerrier
authors.forename: L
authors.initials: L
authors.lastname: Legeai
authors.forename: A
authors.initials: A
authors.lastname: Kahn
authors.forename: N
authors.initials: N
authors.lastname: Josso
authors.forename: J Y
authors.initials: JY
authors.lastname: Picard
mesh_terms: D054304:Anti-Mullerian Hormone; D001483:Base Sequence; D015139:Blotting, Southern; D015153:Blotting, Western; D012734:Disorders of Sex Development / Q000235:genetics*; D006023:Glycoproteins; D006131:Growth Inhibitors / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009841:Oligonucleotides / Q000737:chemistry; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D013735:Testicular Hormones / Q000172:deficiency / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D006023:Glycoproteins; D006131:Growth Inhibitors; D009841:Oligonucleotides; D012333:RNA, Messenger; D013735:Testicular Hormones; D054304:Anti-Mullerian Hormone