Article
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
American journal of human genetics - 6 Apr 2023
Lecca Mauro, Pehlivan Davut, Suñer Damià Heine, Weiss Karin, Coste Thibault, Zweier Markus, Oktay Yavuz, Danial-Farran Nada, Rosti Vittorio, Bonasoni Maria Paola, Malara Alessandro, Contrò Gianluca, Zuntini Roberta, Pollazzon Marzia, Pascarella Rosario, Neri Alberto, Fusco Carlo, Marafi Dana, Mitani Tadahiro, Posey Jennifer Ellen, Bayramoglu Sadik Etka, Gezdirici Alper, Hernandez-Rodriguez Jessica, Cladera Emilia Amengual, Miravet Elena, Roldan-Busto Jorge, Ruiz María Angeles, Bauzá Cristofol Vives, Ben-Sira Liat, Sigaudy Sabine, Begemann Anaïs, Unger Sheila, Güngör Serdal, Hiz Semra, Sonmezler Ece, Zehavi Yoav, Jerdev Michael, Balduini Alessandra, Zuffardi Orsetta, Horvath Rita, Lochmüller Hanns, Rauch Anita, Garavelli Livia, Tournier-Lasserve Elisabeth, Spiegel Ronen, Lupski James R, Errichiello Edoardo
Abstract excerpt
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in thirteen individuals, including four fetuses, from eight unrelated families associated with homozygous loss-of-function variant alleles of ESAM which encodes an...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.