Case Report: A rare stop-gained MYZAP mutation is associated with atrioventricular septal defects in an Arabian family - Takeaways - MDSpire

Case Study: An Uncommon Stop-Gained MYZAP Mutation Linked to Atrioventricular Septal Defects in an Arabian Family

  • By

  • Zaher Zaher

  • Gaser Abdelmohsen

  • Saud Bahaidarah

  • Faris Baamer

  • Angham Abdulrhman Abdulkareem

  • Abdulmajeed F. Alrefaei

  • Muhammad Imran Naseer

  • Muhammad Abu-Elmagd

  • July 20, 2026

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  • 1

    Atrioventricular septal defects (AVSDs) are congenital cardiac malformations linked to abnormal endocardial cushion development.

  • 2

    A novel homozygous stop-gain variant in the MYZAP gene was identified in two siblings from an Arabian family with AVSD.

  • 3

    The MYZAP variant is rare and meets ACMG criteria for likely pathogenicity, suggesting a potential role in cardiac septation.

  • 4

    The family exhibited a spectrum of AVSD phenotypes, including complete AVSD, partial AVSD, and an isolated cleft of the anterior mitral leaflet.

  • 5

    Further functional studies are needed to validate the association between MYZAP and congenital cardiac malformations.

Original Source(s)

Case Report: A rare stop-gained MYZAP mutation is associated with atrioventricular septal defects in an Arabian family

  • by Zaher Zaher, Gaser Abdelmohsen, Saud Bahaidarah, Faris Baamer, Angham Abdulrhman Abdulkareem, Abdulmajeed F. Alrefaei, Muhammad Imran Naseer, Muhammad Abu-Elmagd

  • July 20, 2026

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