Prevalence of theAMHR2mutation in Miniature Schnauzers and genetic investigation of a Belgian Malinois with persistent Müllerian duct syndrome

Authors:
Publisher website
Google Scholar
Abstract
Contents: Persistent Müllerian duct syndrome (PMDS) is a sex‐limited disorder in which males develop portions of the female reproductive tract. Important consequences ofPMDSare cryptorchidism and its sequelae of infertility and increased risk of testicular cancer. Anti‐Müllerian hormone (AMH) and its receptor (AMHR2) induce the regression of the Müllerian ducts in male embryos. In Miniature Schnauzer dogs, the genetic basis has been identified as an autosomal recessive nonsense mutation inAMHR2, but the allele frequency of the mutation is unknown. Thus, the primary objective of this study was to estimate the prevalence of theAMHR2mutation in North American Miniature Schnauzers, in order to ascertain the value of genetic testing in this breed. An additional objective was to determine whether mutations inAMHorAMHR2were responsible forPMDSin a Belgian Malinois; this would aid development of a genetic test for the Belgian Malinois breed. GenomicDNAfrom 216 Miniature Schnauzers (including one knownPMDScase) was genotyped for theAMHR2mutation, andDNAfrom a singlePMDS‐affected Belgian Malinois was sequenced for all coding exons ofAMHandAMHR2. The Miniature Schnauzer cohort had anAMHR2mutation allele frequency of 0.16 and a carrier genotypic frequency of 0.27. The genetic basis forPMDSin the Belgian Malinois was not determined, as no coding or splicing mutations were identified in eitherAMHorAMHR2. These findings support a benefit toAMHR2mutation testing Miniature Schnauzers used for breeding or with cryptorchidism.
Funding Information
  • National Institutes of Health (K01‐OD019912)

This publication has 23 references indexed in Scilit: