A de novo frameshift variant in the DLL1 gene was identified in an ASD proband from the Simons Simplex Collection in O'Roak et al., 2014. Fischer-Zirnsak et al., 2019 identified 15 individuals from 12 unrelated families with heterozygous and likely pathogenic DLL1 variants; the most common phenotypes observed in this cohort were developmental delay/intellectual disability (12/14), autism spectrum disorder (6/14), seizures (6/14), muscular hypotonia (6/14), abnormal brain MRI (11/15), and facial dysmorphism (8/15).
Molecular Function
DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
