Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
ESAM
blood-brain barrier
epilepsy
exome sequencing
global developmental delay
intellectual disability
intracranial hemorrhage
neurodevelopmental disorders
pregnancy loss
retinopathy
tight junctions
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
06 04 2023
06 04 2023
Historique:
received:
09
01
2023
accepted:
07
03
2023
medline:
11
4
2023
pubmed:
31
3
2023
entrez:
30
3
2023
Statut:
ppublish
Résumé
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
Identifiants
pubmed: 36996813
pii: S0002-9297(23)00089-7
doi: 10.1016/j.ajhg.2023.03.005
pmc: PMC10119151
pii:
doi:
Substances chimiques
Cell Adhesion Molecules
0
Esam protein, mouse
0
ESAM protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
681-690Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM007526
Pays : United States
Organisme : NINDS NIH HHS
ID : K23 NS125126
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS105078
Pays : United States
Organisme : NHGRI NIH HHS
ID : K08 HG008986
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011758
Pays : United States
Informations de copyright
Copyright © 2023 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests J.R.L. has stock ownership in 23andMe and is a paid consultant for the Regeneron Genetics Center.
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