Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

We identified homozygous loss-of-function variants in ESAM, encoding an endothelial cell adhesion molecule, in thirteen individuals (including four fetuses) showing intracerebral hemorrhage in prenatal age and neurodevelopmental disorders. Our findings contribute to expand an emerging group of diseases caused by alterations of tight-junction genes (e.g., JAM2, JAM3, OCLN).

Source: The American Journal of Human Genetics - March 29, 2023 Category: Genetics & Stem Cells Authors: Mauro Lecca, Davut Pehlivan, Dami à Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarell Tags: Report Source Type: research