Analysis of HCM in an understudied population reveals a new mechanism of pathogenicity
Yasmine Aguib, Mona Allouba, Roddy Walsh, Ayman Maher Ibrahim, Sarah Halawa, Alaa Afify, Mohamed Hosny, Pantazis I. Theotokis, Aya A. Galal, Sara Elshorbagy, Mohamed Roshdy, Heba Sh. Kassem, Amany Ellithy, Rachel J. Buchan, Nicola Whiffin, , Magdi Habib Yacoub
The paper identifies a frameshift variant in MYH7 associated with HCM in an Egyptian cohort, revealing a new pathogenic mechanism involving distal PTC escape from NMD.
Circulation · Aug 30, 2021Peer-reviewedGenetic & Genomic Medicine