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Malattie variabili dello sviluppo neurologico causate da aploinsufficienza nel ligando notch DLL1

Am J Hum Genet. 2019 Sep 5;105(3):631-639

Informazioni sugli autori

  1. Charité – Universitätsmedizin Berlin, Berlin 13353, Germany.
  2. Charité – Universitätsmedizin Berlin, Berlin 13353, Germany; Berlin Institute of Health (BIH), Berlin 10117, Germany.
  3. Department of Genetics, Assistance Publique – Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris 75013, France.
  4. Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
  5. Department of Pediatrics, The Children’s Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA.
  6. Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children’s Mercy Hospitals, Kansas City, MO 64108, USA
  7. Neuroscape Center, Departments of Neurology, Pediatrics, Physiology, Radiology, and Psychiatry, University of California, San Francisco, CA 94158, USA.
  8. GeneDx, Gaithersburg, MD 20877, USA.
  9. Akron Children’s Hospital, Akron, OH 44302, USA.
  10. Praxis für Humangenetik Tübingen, Tübingen 72076, Germany.
  11. Division of Child Neurology, Department of Pediatrics, Children’s Mercy Hospital & Clinics, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.
  12. Division of Clinical Genetics, Children’s Mercy Hospital & Clinics, Kansas City, MO 64108, USA.
  13. Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA.
  14. Division of Genetics, Department Pediatrics, University of California, San Francisco, CA 94143-2711, USA.
  15. Cortica Healthcare, San Rafael, CA 94903, USA.
  16. Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.
  17. Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children’s Hospital, Vancouver, BC V6H 3N1, Canada.
  18. Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children’s Mercy Hospitals, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.
  19. Department of Pediatrics, The Children’s Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
  20. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  21. Charité – Universitätsmedizin Berlin, Berlin 13353, Germany. Electronic address: nadja.ehmke@charite.de.

Abstract

La via di segnalazione dei recettori Notch è una via di sviluppo consolidata per la morfogenesi cerebrale. Dato che Delta-like 1 (DLL1) è un ligando per il recettore Notch e che alcuni soggetti con ritardo dello sviluppo, disabilità intellettiva e malformazioni cerebrali hanno microdelezioni che racchiudono l’DLL1, abbiamo ipotizzato che l’insufficienza di DLL1 causasse un disturbo neurologico dello sviluppo.

Abbiamo eseguito il sequenziamento dell’esoma in soggetti con disturbi dello sviluppo neurologico. La coorte è stata identificata utilizzando nodi Matchmaker Exchange noti come GeneMatcher.

Questo metodo ha identificato 15 individui di 12 famiglie non correlate con varianti DLL1 patogene eterozigoti.

Per continuare a leggere la news in lingua originale:

Fonte: “Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.”, PubMed

Tratto da: https://www.ncbi.nlm.nih.gov/pubmed/31353024