The DVL2 gene encodes a cytoplasmic transducer protein belonging to the dishevelled (dsh) family of intracellular scaffolding proteins. Members of this family act directly downstream of transmembrane WNT frizzled receptors and are involved in both canonical and non-canonical Wnt signaling pathways. DVL2 works by binding to the cytoplasmic C-terminal of frizzled receptors and transducing the Wnt signal to downstream effectors. By carrying out its function, DVL2 is believed to play a role in several developmental processes such as heart outflow tract morphogenesis, cochlea morphogenesis, convergent extension involved in neural plate elongation and neural tube closure.
The DVL2 gene is located on the short arm of chromosome 17. It spans a length of just 9.2 kb of DNA and its coding sequence is contained within 16 exons. The gene encodes a 78.9 kDa protein product composed of 736 amino acids. While the gene is widely expressed in the human body, overexpression is seen in the fetal ovary and testis as well as the adult ovary.
Monies et al. (2017) illustrated the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 7-year-old female from a consanguineous family, suffered from cardiomyopathy, short stature, ptosis, facial dysmorphia and developmental delay. Using whole exome sequencing, a homozygous mutation (c.1690C>T, p.Q564X) was identified in exon 14 of the patient’s DVL2 gene. This mutation was considered a candidate for pathogenicity as it was a novel variant located within a run of homozygosity and was predicted to be deleterious; and Dvl2 knockout mice displayed a compatible cardiovascular and neurological phenotype. Further studies are required to independently confirm this association.
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