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CFERV 2019 Lemke

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GRIN variants are associated with a large number of conditions, in particular seizures and developmental delay. The clinical characteristics and patient attributes for GRIN2A and GRIN2B
variants will be summarized. Information will be provided on patient phenotype, location of variant in the context or protein domains, and symptom severity. Efforts to stratify and categorize patients on the basis of symptoms, location of mutation in terms of protein domain and gene is necessary to
improve clinical care.

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CFERV 2019 Lemke

  1. 1. Clinical and genetic spectrum of GRIN2A and GRIN2B variants Johannes Lemke Atlanta 13.09.2019 © Johannes Lemke
  2. 2. 2 Leipzig GRIN-DB GRIN2A GRIN2B Outlook Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  3. 3. 3 Leipzig GRIN-DB GRIN2A GRIN2B Outlook Konrad Platzer Vincent Strehlow Henrike Heyne Rami Jamra Team in Leipzig Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  4. 4. 4 Leipzig GRIN-DB GRIN2A GRIN2B Outlook www.grin-database.de >100x GRIN1 >250x GRIN2A >100x GRIN2B few GRIN2D Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta; www.grin-database.de © Johannes Lemke
  5. 5. 5 Leipzig GRIN-DB GRIN2A GRIN2B Outlook www.grin-database.de Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta; www.grin-database.de © Johannes Lemke
  6. 6. 6 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 247 cases with GRIN2A (Strehlow et al., 2019) Some variants are unique, some are recurrent Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  7. 7. 7 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 247 cases with GRIN2A (Strehlow et al., 2019) Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  8. 8. 8 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 247 cases with GRIN2A (Strehlow et al., 2019) Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  9. 9. 9 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 247 cases with GRIN2A (Strehlow et al., 2019) LBD Membrane M1 ABD ATD M4 M2 M3 This situation is a bit more complex… Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  10. 10. 10 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 91 cases with GRIN2B (Platzer et al., 2017) GRIN2A GRIN2B Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  11. 11. 11 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 91 cases with GRIN2B (Platzer et al., 2017) Intellectual disability GRIN1 5% mild 95% profound GRIN2A 38% normal 20% mild 23% mod-prof GRIN2B 15% mild 85% mod-prof GRIN2D 100% profound Impaired speech GRIN1 100% GRIN2A 92% GRIN2B 100% GRIN2D 100% seizures GRIN1 70% (9% ES) GRIN2A 88% (2% ES, 55% focal, 10% generalized) GRIN2B 52% (37% ES) GRIN2D 100% (100% ES) Movement disorders GRIN1 61% (22% OGC) GRIN2A <10% GRIN2B 10% GRIN2D 100% Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  12. 12. 12 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 91 cases with GRIN2B (Platzer et al., 2017) MRI findings GRIN1 58% cortical atrophy some MCD GRIN2A Rarely cortical atrophy GRIN2B 9% cortical atrophy 14% MCD GRIN2D 100% cortical atrophy Muscular hypotonia GRIN1 71% GRIN2A rare GRIN2B 53% GRIN2D 100% Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  13. 13. 13 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 91 cases with GRIN2B (Platzer et al., 2017) Polymicrogyria + large, dysplastic basal ganglia Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke
  14. 14. 14 Leipzig GRIN-DB GRIN2A GRIN2B Outlook What should we aim for? ONE big shared DB Organised by any initiative Content revised by researchers Accessable by researchers Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

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