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Variants of the anti-Mllerian hormone gene in a compound heterozygote with the persistent Mllerian duct syndrome and his family by Danièle Carré-Eusèbe; Sandrine Imbeaud; Madeleine Harbison; Maria I. New; Nathalie Josso; Jean-Yves Picard is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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The persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism, characterized by the persistence of Müllerian derivatives in otherwise normal males. Two mutations, present in the homozygous state, have been previously described in such patients. The present observation is the first example of compound heterozygosity in this condition. DNA was obtained from a 3-month-old patient with PMDS, in whom no serum anti-Müllerian hormone (AMH) could be detected by enzyme-linked immunosorbent assay. Sequencing of cloned polymerase chain reaction amplified fragments of the AMH gene revealed a 14-bp deletion in the second exon of the maternal allele; this deletion disrupted the open reading frame. It occurred at a site containing two 8-bp direct repeats flanking a 6-bp sequence and removed one whole repeat plus all of the intervening sequence. It may be the result of a slipped mispairing at the DNA replication fork. The paternal allele contains a stop mutation in the third exon. These two mutations, impairing both AMH alleles, are consistent with the occurrence of PMDS, and are shared with a phenotypically normal younger sister. In this family, various other mutation

Who reads Variants of the anti-Mllerian hormone gene in a compound heterozygote with the persistent Mllerian duct syndrome and his family?

Author

Danièle Carré-Eusèbe; Sandrine Imbeaud; Madeleine Harbison; Maria I. New; Nathalie Josso; Jean-Yves Picard

Publisher

Springer; Springer-Verlag; Springer Verlag; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 0340-6717)

Published

1992

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)