Article
Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.
Clinical genetics - 1 Nov 2026
Ho Thi Bich Tuyen, Coudert Alicia, Do Thi Thuy Hang, Le Thi Thanh Thuy, Gauthier Marjolaine, Dubucs Charlotte, Mortreux Jeremie, Monin Pauline, Chatron Nicolas, Devillard Françoise, Coutton Charles, Satre Véronique, Harbuz Radu, Dufour William, Januel Louis, Celse Tristan, Paris Clara, Consortium Auragen, Tran Le Tuyet Mai, Trinh Huu Tung, Jouk Pierre-Simon, Truong Ba Luu, Nguyen Thi Kim Nhi, Thevenon Julien
Abstract excerpt
Heterotaxy (HTX) is a rare condition characterized by complex congenital heart defects and a wide spectrum of extracardiac abnormalities that significantly impact survival. While molecular diagnosis is essential for clinical management, next-generation sequencing (NGS) currently identifies disease-causing variants in only 20%-30% of HTX cases. To address this diagnostic gap, we collected cases of HTX investigated...
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