Association of hydrocephalus and renal dysplasia
These findings were presented at the ASHG 2018.
Association of hydrocephalus and renal dysplasia with a homozygous DLG5 frameshift variant in an alternatively spliced exon
- DLG5 is large gene (32 exons) encoding the large DLG5 protein (1,919 residues).
- DLG5 has multiple cellular functions.
- Knockout of the murine homologue Dlg5 causes variably severe hydrocephalus and renal cysts.
- Certain DLG5 haplotypes have been suggested to predispose to inflammatory bowel disease.
- Monogeneic DLG5-related phenotypes have not been described.