Human Molecular Genetics, Vol 5, 1269-1277, Copyright © 1996 by Oxford University Press
S Imbeaud, C Belville, L Messika-Zeitoun, R Rey, N di Clemente, N Josso and JY Picard
The persistent mullerian duct syndrome, characterized by the lack of
regression of mullerian derivatives, uterus and tubes in otherwise normally
masculinized males, is a genetically transmitted disorder implicating
either anti-mullerian hormone (AMH), a member of the transforming growth
factor-beta superfamily, or its type II receptor, a serine/threonine kinase
homologous to the receptors of other members of the transforming growth
factor-beta superfamily. We have now performed molecular studies in a total
of 38 families. The basis of the condition, namely 16 AMH and 16 AMH
receptor mutations, was identified in 32 families. The type of genetic
defect could be predicted from the level of serum AMH which is very low or
undetectable in patients with AMH mutations and at the upper limit of
normal in receptor mutations. Whereas AMH mutations are extremely diverse,
patients from 10 out of 16 families with receptor mutations had a 27 bp
deletion in exon 10 on at least one allele. This deletion is thus
implicated in approximately 25% of patients with persistent mullerian duct
syndrome. All AMH and AMH receptor mutations were consistent with an
autosomal recessive mode of transmission.
ARTICLES
A 27 base-pair deletion of the anti-mullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome
Unite de Recherches sur l'Endocrinologie du Developpement (INSERM), Ecole Normale Superieure, Departement de Biologie, Montrogue, France.
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