Publication: Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
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Lecca, M., Pehlivan, D., Suñer, D. H., Weiss, K., Coste, T., Zweier, M., Oktay, Y., Danial-Farran, N., Rosti, V., Bonasoni, M. P., Malara, A., Contrò, G., Zuntini, R., Pollazzon, M., Pascarella, R., Neri, A., Fusco, C., Marafi, D., Mitani, T., … et al. (2023). Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. American Journal of Human Genetics, 110, 681–690. https://doi.org/10.1016/j.ajhg.2023.03.005
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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 endothelial cell adhesion molecule. The c.115del (p.Arg39Glyfs∗33) variant, identified in six individuals from four independent f
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Lecca, M., Pehlivan, D., Suñer, D. H., Weiss, K., Coste, T., Zweier, M., Oktay, Y., Danial-Farran, N., Rosti, V., Bonasoni, M. P., Malara, A., Contrò, G., Zuntini, R., Pollazzon, M., Pascarella, R., Neri, A., Fusco, C., Marafi, D., Mitani, T., … et al. (2023). Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. American Journal of Human Genetics, 110, 681–690. https://doi.org/10.1016/j.ajhg.2023.03.005
