Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.
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.
Knebelmann
B
B
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.
Boussin
L
L
Guerrier
D
D
Legeai
L
L
Kahn
A
A
Josso
N
N
Picard
J Y
JY
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
D006023:Glycoproteins; D006131:Growth Inhibitors; D009841:Oligonucleotides; D012333:RNA, Messenger; D013735:Testicular Hormones; D054304:Anti-Mullerian Hormone