HK and US scientists identify new gene linked to rare neurodevelopmental disorder
Researchers from the LKS Faculty of Medicine at the University of Hong Kong (HKUMed) and international genetic scientists have identified a new gene, DDX39B, linked to a rare neurodevelopmental disorder. Using multi-omics analysis, they discovered that mutations in this gene affect brain function, leading to developmental delays and hypotonia. The study, published in Brain, found that DDX39B variants are present in six cases worldwide.
The study, which was funded by the Society for the Relief of Disabled Children, the Health and Medical Research Fund, and other institutions in Hong Kong and the US, has been led by Dr. Brian Chung Hon-yin, a Clinical Associate Professor at HKUMed led the study with Dr. Christopher Mak Chun-yu and PhD student Martin Chui Man-chun, in collaboration with international researchers Dr. Francesco Vetrini and Dr. Kevin T. A. Booth.
The team focused on rare diseases. Previous studies estimate that 1 in 67 people in Hong Kong or about 1.5% of the population, suffer from such conditions, with each patient facing an annual economic burden of approximately HK$490,000. Early genetic diagnosis can, thus, lower costs and reduce financial strain on families, according to the researchers.
In 2022, the HKUMed team studied a local toddler with hypotonia and undiagnosed developmental delays. By analyzing blood samples with multi-omics technologies, including RNA sequencing and proteomics, they identified abnormal RNA splicing linked to a mutation in the DDX39B gene. Further experiments using zebrafish models confirmed the mutation’s role in neurodevelopmental issues.
Thereafter, the team identified six patients from Hong Kong, the US, the UK, and Ireland, all exhibiting hypotonia, short stature, developmental delays, and epilepsy. Dr Chung noted that this finding provides long-awaited answers for patients and families, reducing clinical uncertainty and anxiety. He hopes the research will lead to targeted diagnostic and treatment strategies.
Multi-omics technology, which integrates genomics, transcriptomics, and proteomics, enhances diagnostic accuracy and uncovers genetic factors behind rare diseases. Dr. Chung and his team plan to expand their research on genes related to the transcription-export (TREX) complex to understand their role in neurodevelopmental disorders. They have established an international consortium to explore shared mechanisms and improve diagnostic precision and treatment approaches.
Category: Education
