Malattie rare – Disabilità dello sviluppo neurologico causata da varianti in TCF20
Genet Med. 2019 Sep;21(9):2036-2042
Author information- GeneDx, Gaithersburg, MD, USA. etorti@genedx.com.
- Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
- Genetics of Learning Disability Service, Hunter New England Health, Waratah, NSW, Australia.
- Australia School of Women’s’ and Children’ Health, University of New South Wales, Sydney, NSW, Australia.
- GeneDx, Gaithersburg, MD, USA.
- Département de génétique et embryologie médicale, Hôpital Trousseau, Assistance publique-Hôpitaux de Paris, Paris, France.
- Centre de Référence malformations et maladies congénitales du cervelet, Paris, France.
- Sorbonne Universités, GRC ConCer-LD, Hôpital Armand Trousseau, Paris, France.
- Department of Medicine, Division of Genetics, the University of Tennessee Graduate School of Medicine, University Genetics, Knoxville, TN, USA.
- Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
- Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
- Cedars-Sinai Medical Center, Los Angeles, CA, USA.
- Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
- HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
- Greenwood Genetic Center, Greenwood, SC, USA.
- Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.
- Sorbonne Université, GRC “Déficience Intellectuelle et Autisme”, Paris, France.
- CHU Nantes, Service de Génétique Médicale, Nantes, France.
- l’Institut du Thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
- St. Vincent Hospital and Health Services, Indianapolis, IN, USA.
- University Genetics, University of Tennessee Medical Center, Knoxville, TN, USA.
- University of Minnesota Masonic Children’s Hospital, Minneapolis, MN, USA.
- Division of Genetics and Metabolism, Nicklaus Children’s Hospital, Miami, FL, USA.
- Connecticut Children’s Medical Center, Farmington, CT, USA.
- School of Medicine, University of Connecticut, Farmington, CT, USA.
- Department of Medical Genetics, Lyon University Hospitals, Lyon, France.
- Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon I University, Lyon, France.
- Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
- Albany Medical Center, Albany, NY, USA.
- Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, Paris, France.
- Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA.
- Department of Pediatrics, New York University School of Medicine, New York, NY, USA.
- Riley Hospital for Children, Indianapolis, IN, USA.
- Department of Pediatric Neurology, Women Mother and Children Hospital, Lyon University Hospitals, Lyon, France.
- Service de neuropédiatrie, Hôpital Trousseau, Assistance publique-Hôpitaux de Paris, Paris, France.
- Unité Fonctionnelle de génétique clinique, Hôpital Armand Trousseau, Assistance publique-Hôpitaux de Paris, Centre de Référence des anomalies du développement et syndromes malformatifs, Paris, France.
- GeneDx, Gaithersburg, MD, USA. jjuusola@genedx.com.
Abstract
SCOPO
Per definire le caratteristiche cliniche dei pazienti con varianti in TCF20, sono stati 27 pazienti, 26 dei quali sono stati identificati tramite il sequenziamento dell’esoma. I dati clinici dettagliati sono stati poi confrontati con 17 pazienti precedentemente refertati.
METODI
I pazienti sono stati confermati avere le varianti in esame attraverso laboratori di test molecolari che eseguivano il sequenziamento dell’esoma (e altri test) con conferma di biomarcatori ortogonali; tramite collaborazione con i loro clinici di riferimento che hanno fornito dettagliate informazioni cliniche.
RISULTATI
La coorte di 27 pazienti aveva tutte le nuove varianti e aveva un’età compresa tra 2 e 68 anni.
Per continuare a leggere la news in lingua originale:
Fonte: “Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.”, PubMed.gov
Tratto da: https://www.ncbi.nlm.nih.gov/pubmed/30739909
