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
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

681-690

Subventions

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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Auteurs

Mauro Lecca (M)

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Davut Pehlivan (D)

Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.

Damià Heine Suñer (DH)

Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases, Palma, Illes Balears, Spain; Genomics of Health, Institute of Health Research of the Balearic Islands, Palma, Illes Balears, Spain.

Karin Weiss (K)

Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

Thibault Coste (T)

AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France; Université de Paris, INSERM UMR-1141 Neurodiderot, Paris, France.

Markus Zweier (M)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

Yavuz Oktay (Y)

Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey; Department of Medical Biology, School of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.

Nada Danial-Farran (N)

The Genetic Institute, Emek Medical Center, Afula, Israel.

Vittorio Rosti (V)

Center for the Study of Myelofibrosis, Laboratory of Biochemistry, Biotechnology and Advanced Diagnosis, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.

Maria Paola Bonasoni (MP)

Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Alessandro Malara (A)

Department of Molecular Medicine, University of Pavia, Pavia, Italy; Laboratory of Biochemistry-Biotechnology and Advanced Diagnostics, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.

Gianluca Contrò (G)

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Roberta Zuntini (R)

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Marzia Pollazzon (M)

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Rosario Pascarella (R)

Neuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Alberto Neri (A)

Ophthalmology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Carlo Fusco (C)

Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Dana Marafi (D)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait.

Tadahiro Mitani (T)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Jennifer Ellen Posey (JE)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Sadik Etka Bayramoglu (SE)

Tertiary ROP Center, Health Science University Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.

Alper Gezdirici (A)

Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey.

Jessica Hernandez-Rodriguez (J)

Genomics of Health, Institute of Health Research of the Balearic Islands, Palma, Illes Balears, Spain.

Emilia Amengual Cladera (EA)

Genomics of Health, Institute of Health Research of the Balearic Islands, Palma, Illes Balears, Spain.

Elena Miravet (E)

Metabolic Pathologies and Pediatric Neurology Unit, Pediatric Service, Hospital Universitari Son Espases, Palma, Illes Balears, Spain.

Jorge Roldan-Busto (J)

Pediatric Radiology Unit, Radiology Service, Hospital Universitari Son Espases, Palma, Illes Balears, Spain.

María Angeles Ruiz (MA)

Metabolic Pathologies and Pediatric Neurology Unit, Pediatric Service, Hospital Universitari Son Espases, Palma, Illes Balears, Spain.

Cristofol Vives Bauzá (CV)

Neurobiology, Institute of Health Research of the Balearic Islands, Palma, Illes Balears, Spain.

Liat Ben-Sira (L)

Department of Radiology, Division of Pediatric Radiology, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.

Sabine Sigaudy (S)

AP-HM, Service de Génétique, Hôpital de la Timone, Marseille, France.

Anaïs Begemann (A)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

Sheila Unger (S)

Medical Genetics Service, CHUV, University of Lausanne, Lausanne, Switzerland.

Serdal Güngör (S)

Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey.

Semra Hiz (S)

Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey; Department of Pediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.

Ece Sonmezler (E)

Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey.

Yoav Zehavi (Y)

The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Department of Pediatrics B, Emek Medical Center, Afula, Israel.

Michael Jerdev (M)

Poriya Medical Center and the Azrieli Faculty of Medicine, Bar-Ilan University, Ramat-Gan, Israel.

Alessandra Balduini (A)

Department of Molecular Medicine, University of Pavia, Pavia, Italy; Department of Biomedical Engineering, Tufts University, Medford, MA, USA.

Orsetta Zuffardi (O)

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Rita Horvath (R)

Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PY, UK; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0PY, UK.

Hanns Lochmüller (H)

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa ON K1H 8L1, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON K1H 8L1, Canada.

Anita Rauch (A)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Livia Garavelli (L)

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Elisabeth Tournier-Lasserve (E)

AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France; Université de Paris, INSERM UMR-1141 Neurodiderot, Paris, France.

Ronen Spiegel (R)

The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Department of Pediatrics B, Emek Medical Center, Afula, Israel.

James R Lupski (JR)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.

Edoardo Errichiello (E)

Department of Molecular Medicine, University of Pavia, Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy. Electronic address: edoardo.errichiello@unipv.it.

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Classifications MeSH