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Association of Hydrocephalus and Renal Dysplasia

Florian Vogel Zafer Yüksel, MD Amal Al Hashem Kapil Kampe Krishna Kumar Kandaswamy, PhD Martin Werber Aida M. Bertoli-Avella, MD Prof. Arndt Rolfs, MD Dr. Peter Bauer, MD
October 16, 2018

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.