RGD Reference Report - Variants of the anti-Mullerian hormone gene in a compound heterozygote with the persistent Mullerian duct syndrome and his family. - Rat Genome Database

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Variants of the anti-Mullerian hormone gene in a compound heterozygote with the persistent Mullerian duct syndrome and his family.

Authors: Carre-Eusebe, D  Imbeaud, S  Harbison, M  New, MI  Josso, N  Picard, JY 
Citation: Carre-Eusebe D, etal., Hum Genet. 1992 Dec;90(4):389-94.
RGD ID: 1601180
Pubmed: PMID:1483695   (View Abstract at PubMed)

The persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism, characterized by the persistence of Mullerian 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-Mullerian 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 mutations, devoid of physiological significance, suggest that the AMH gene is highly polymorphic.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
disorder of sexual development susceptibilityIAGP 1601180Persistent Mullerian Duct Syndrome type I more ...RGD 
disorder of sexual development susceptibilityISOAMH (Homo sapiens)1601180; 1601180Persistent Mullerian Duct Syndrome type I more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Amh  (anti-Mullerian hormone)

Genes (Mus musculus)
Amh  (anti-Mullerian hormone)

Genes (Homo sapiens)
AMH  (anti-Mullerian hormone)


Additional Information