2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-<em>DLG2</em> intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism

DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism

Back to course

Pdf Summary

A study was conducted to investigate the association between DLG2 gene mutations and neurodevelopmental disorders. DLG2 is a gene that plays a crucial role in synapse formation and organization. Previous studies have suggested a link between DLG2 and neurodevelopmental disorders, but more research is needed to confirm this association and understand the impact of DLG2 gene mutations. <br /><br />The study analyzed chromosomal microarray data from over 11,000 patients and compared it to control datasets. They identified 13 individuals with DLG2 intragenic deletions and found that these deletions were significantly more common in their cohort compared to the control datasets. This supports the idea that DLG2 gene mutations are associated with neurodevelopmental disorders. <br /><br />The study also examined the clinical features of the patients with DLG2 intragenic deletions. They found that developmental delays and congenital anomalies/dysmorphism were the most common phenotypes among the patients. Most of the DLG2 microdeletions were located in the 5' region of the gene, particularly in regions associated with high expression levels of the DLG2 isoforms. <br /><br />The researchers identified both de novo cases and cases with a family history of DLG2 gene mutation. This suggests that DLG2 mutations can arise spontaneously or be inherited. The study also found that DLG2 has a high probability of being a haploinsufficient gene, meaning that having only one functional copy of the gene is not sufficient for normal development. <br /><br />Overall, this study provides further evidence for the association between DLG2 gene mutations and neurodevelopmental disorders. It highlights the importance of understanding the role of DLG2 in brain development and the need for further research to fully characterize the clinical implications of DLG2 gene mutations.

Asset Subtitle

Presenting Author - Yunjia Chen, PhD, MBA; Co-Author - Ender Karaca, MD, FACMG; Co-Author - Nathaniel H. Robin, MD; Co-Author - Dana Goodloe, MS, CGC; Co-Author - Ali Al-Beshri, MD; Co-Author - S. Joy Dean, MD; Co-Author - Anna CE. Hurst, MD; Co-Author - Andrew J. Carroll, PhD, FACMG; Co-Author - Fady M. Mikhail, MD, PhD, FACMG;

Meta Tag

Microarray

Intellectual disability

Genetic Testing

Cytogenetics

Clinical Cytogenetics

array CGH

Co-Author Fady M. Mikhail, MD, PhD, FACMG

Co-Author Andrew J. Carroll, PhD, FACMG

Co-Author Anna CE. Hurst, MD

Co-Author S. Joy Dean, MD

Co-Author Ali Al-Beshri, MD

Co-Author Dana Goodloe, MS, CGC

Co-Author Nathaniel H. Robin, MD

Co-Author Ender Karaca, MD, FACMG

Presenting Author Yunjia Chen, PhD, MBA

Keywords

DLG2 gene mutations

neurodevelopmental disorders

synapse formation

organization

chromosomal microarray data

DLG2 intragenic deletions

developmental delays

congenital anomalies

DLG2 microdeletions

haploinsufficient gene