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Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase

4 Nov 2022

Abstract excerpt

STUDY QUESTION: Can mutations of genes other than AMH or AMHR2, namely PPP1R12A coding myosin phosphatase, lead to persistent Müllerian duct syndrome (PMDS)? SUMMARY ANSWER: The detection of PPP1R12A truncation mutations in five cases of PMDS suggests that myosin phosphatase is involved in Müllerian regression, independently of the anti-Müllerian hormone (AMH) signaling cascade. WHAT IS KNOWN ALREADY: Mutations...

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PMID: 36331510
DOI: 10.1093/humrep/deac239

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