O18: Deciphering DHX9 gene pathogenicity in neurological disorders with distinct phenotypes

Genetics in Medicine Open 2026 Open access

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Authors: Tianyu Guo, Chen Wang, Lihai Gong, Daniel G. Calame, James Lupski, Yong Lei, Shen Gu
DOI: 10.1016/j.gimo.2026.104305
Cited by: 0

Abstract

Neurodevelopmental disorders (NDDs) encompass a spectrum of conditions affecting brain development and function, with approximately 90% lacking approved treatments. Understanding their pathogenic mechanisms is essential for developing precision therapies. Recently, we identified de novo variants in the DExH-box helicase 9 (DHX9) gene in patients exhibiting diverse neurological phenotypes, ranging from severe NDD with brain structural abnormalities, mild NDD with normal brain MRI, to adult-onset type 2 Charcot-Marie-Tooth (CMT) - a distal symmetric peripheral polyneuropathy.

Fields of Study & Subjects

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Hereditary Neurological Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104305–104305
Publication date
1 January 2026
Language
EN