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Publications about genetic testing for neurological disorders
  1. Association of Hydrocephalus and Renal Dysplasia

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

Background:

  • 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.