Bi-allelic variants in

Animals Humans Zebrafish Lung / pathology Base Sequence Wnt Signaling Pathway Exome Mammals / metabolism Wnt Proteins / metabolism
human genetics

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
03 2023
Historique:
received: 28 01 2022
accepted: 11 06 2022
pubmed: 6 7 2022
medline: 3 3 2023
entrez: 5 7 2022
Statut: ppublish

Résumé

Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants in We sequenced the exome of patients with unexplained PDAC syndrome and performed functional validation of candidate variants. We identified bi-allelic variants in Our findings indicate that defective WNT7B function underlies a form of lung hypoplasia that is associated with the PDAC syndrome, and provide evidence for involvement of the WNT-β-catenin pathway in human lung, tracheal, ocular, cardiac, and renal development.

Sections du résumé

BACKGROUND
Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants in
METHODS
We sequenced the exome of patients with unexplained PDAC syndrome and performed functional validation of candidate variants.
RESULTS
We identified bi-allelic variants in
CONCLUSION
Our findings indicate that defective WNT7B function underlies a form of lung hypoplasia that is associated with the PDAC syndrome, and provide evidence for involvement of the WNT-β-catenin pathway in human lung, tracheal, ocular, cardiac, and renal development.

Identifiants

DOI: 10.1136/jmedgenet-2022-108475 PMID: 35790350
pubmed: 35790350
pii: jmedgenet-2022-108475
doi: 10.1136/jmedgenet-2022-108475
doi:

Substances chimiques

WNT7B protein, human 0
Wnt Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

294-300

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Samir Bouasker (S)

Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.

Nisha Patel (N)

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Rebecca Greenlees (R)

Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney; The Children's Hospital at Westmead, Sydney Children's Hospitals Network; and Save Sight Institute, Sydney, New South Wales, Australia.

Diana Wellesley (D)

Wessex Clinical Genetic Service, University Hospital Southampton, Southampton, UK.

Lucas Fares Taie (L)

Laboratory Genetics in Ophthalmology, INSERM UMR1163, Imagine Institute for Genetic Diseases, Université Paris Descartes-Sorbonne, Paris, Île-de-France, France.

Naif A Almontashiri (NA)

Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Al Madinah, Saudi Arabia.
Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Julia Baptista (J)

Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK.
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
ORCID: 0000-0003-0915-5028

Malak Ali Alghamdi (MA)

Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Sarah Boissel (S)

Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.

Jelena Martinovic (J)

Unit of Fetal Pathology, APHP Hopital Antoine-Beclere, Clamart, Île-de-France, France.

Ivan Prokudin (I)

Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney; The Children's Hospital at Westmead, Sydney Children's Hospitals Network; and Save Sight Institute, Sydney, New South Wales, Australia.

Samantha Holden (S)

Department of Cellular Pathology, University Hospital Southampton, Southampton, UK.

Hardeep-Singh Mudhar (HS)

National Specialist Ophthalmic Pathology Service (NSOPS), Dept of Histopathology, Royal Hallamshire Hospital, Sheffield, UK.

Lisa G Riley (LG)

Rare Diseases Functional Genomics Laboratory, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
Specialty of Paediatrics and Child Health, Faculty of Medicine and Health, University of Sydney, Sidney, New South Wales, Australia.

Christina Nassif (C)

Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.

Tania Attie-Bitach (T)

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute for Genetic Diseases, Paris, Île-de-France, France.

Marguerite Miguet (M)

Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.

Marion Delous (M)

Equipe GENDEV, Centre de Recherche en Neurosciences de Lyon, Inserm U1028, CNRS UMR5292, Université Lyon 1, Université St Etienne, Lyon, Auvergne-Rhône-Alpes, France.

Sylvain Ernest (S)

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute for Genetic Diseases, Paris, Île-de-France, France.

Julie Plaisancié (J)

Department of Medical Genetics, Purpan University Hospital, Toulouse, Midi-Pyrénées, France.
Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Purpan University Hospital, Toulouse, Midi-Pyrénées, France.
INSERM U1214, ToNIC, Université Toulouse III, Toulouse, France.

Patrick Calvas (P)

Department of Medical Genetics, Purpan University Hospital, Toulouse, Midi-Pyrénées, France.
Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Purpan University Hospital, Toulouse, Midi-Pyrénées, France.

Jean-Michel Rozet (JM)

Laboratory Genetics in Ophthalmology, INSERM UMR1163, Imagine Institute for Genetic Diseases, Université Paris Descartes-Sorbonne, Paris, Île-de-France, France.

Arif O Khan (AO)

Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, Abu Dhabi, UAE.

Fadi F Hamdan (FF)

Research Center, University Hospital Centre Sainte-Justine, Montreal H3T 1C5, Québec, Canada.

Robyn V Jamieson (RV)

Eye Genetics Research Unit, Children's Medical Research Institute, University of Sydney; The Children's Hospital at Westmead, Sydney Children's Hospitals Network; and Save Sight Institute, Sydney, New South Wales, Australia.
Specialty of Genomic Medicine, Faculty of Medicine and Health and Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.

Fowzan S Alkuraya (FS)

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia chassaing.n@chu-toulouse.fr jacques.michaud.med@ssss.gouv.qc.ca FAlKuraya@kfshrc.edu.sa.
Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
ORCID: 0000-0003-4158-341X

Jacques L Michaud (JL)

Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal H3T 1J4, Québec, Canada chassaing.n@chu-toulouse.fr jacques.michaud.med@ssss.gouv.qc.ca FAlKuraya@kfshrc.edu.sa.
Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, Québec, Canada.

Nicolas Chassaing (N)

Department of Medical Genetics, Purpan University Hospital, Toulouse, Midi-Pyrénées, France chassaing.n@chu-toulouse.fr jacques.michaud.med@ssss.gouv.qc.ca FAlKuraya@kfshrc.edu.sa.
Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, Purpan University Hospital, Toulouse, Midi-Pyrénées, France.
ORCID: 0000-0003-0234-8820

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Bi-allelic variants in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Bi-allelic variants in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Poissons › Cypriniformes › Cyprinidae › Danio zébré › Bi-allelic variants in
questionsmedicales.fr › Appareil respiratoire › Poumon › Bi-allelic variants in
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Données de séquences moléculaires › Séquence nucléotidique › Bi-allelic variants in
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Transduction du signal › Voie de signalisation Wnt › Bi-allelic variants in
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Exome › Bi-allelic variants in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Bi-allelic variants in
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Protéines de type Wingless › Bi-allelic variants in