Pathogenic variants in

Animals Chylothorax / genetics Endothelial Cells Female Humans Hydrops Fetalis / genetics Lymphatic Vessels / pathology Lymphedema / genetics Mice Myogenic Regulatory Factors / genetics Pregnancy

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
02 03 2022
Historique:
entrez: 2 3 2022
pubmed: 3 3 2022
medline: 27 4 2022
Statut: ppublish

Résumé

Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise. Although pathogenic variants in RAS/mitogen activated protein kinase (MAPK) signaling pathway components have been documented in some patients with CCLA, the genetic etiology of the disorder remains uncharacterized in most cases. Here, we identified biallelic pathogenic variants in

Identifiants

DOI: 10.1126/scitranslmed.abm4869 PMID: 35235341
pubmed: 35235341
doi: 10.1126/scitranslmed.abm4869
doi:

Substances chimiques

MDFIC protein, human 0
Myogenic Regulatory Factors 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

eabm4869

Auteurs

Alicia B Byrne (AB)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
Clinical and Health Sciences, University of South Australia, 5001 Adelaide, Australia.
ORCID: 0000-0002-8141-1818

Pascal Brouillard (P)

Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.
ORCID: 0000-0001-9548-8229

Drew L Sutton (DL)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
ORCID: 0000-0003-1905-6023

Jan Kazenwadel (J)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
ORCID: 0000-0001-6216-3444

Saba Montazaribarforoushi (S)

Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
ORCID: 0000-0002-2478-0502

Genevieve A Secker (GA)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
ORCID: 0000-0002-5109-3222

Anna Oszmiana (A)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
ORCID: 0000-0003-1501-4184

Milena Babic (M)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
Department of Genetics and Molecular Pathology, SA Pathology, 5000 Adelaide, Australia.
ORCID: 0000-0002-6526-1020

Kelly L Betterman (KL)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
ORCID: 0000-0003-2509-6056

Peter J Brautigan (PJ)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
Department of Genetics and Molecular Pathology, SA Pathology, 5000 Adelaide, Australia.
ORCID: 0000-0001-9570-5879

Melissa White (M)

Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
Genome Editing Program, South Australian Health and Medical Research Institute, 5000 Adelaide, Australia.
South Australian Genome Editing Facility, University of Adelaide, 5005 Adelaide, Australia.
ORCID: 0000-0002-8748-9210

Sandra G Piltz (SG)

Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
Genome Editing Program, South Australian Health and Medical Research Institute, 5000 Adelaide, Australia.
South Australian Genome Editing Facility, University of Adelaide, 5005 Adelaide, Australia.
ORCID: 0000-0003-3386-8140

Paul Q Thomas (PQ)

Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
Genome Editing Program, South Australian Health and Medical Research Institute, 5000 Adelaide, Australia.
South Australian Genome Editing Facility, University of Adelaide, 5005 Adelaide, Australia.

Christopher N Hahn (CN)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
Department of Genetics and Molecular Pathology, SA Pathology, 5000 Adelaide, Australia.
ACRF Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
ORCID: 0000-0001-5105-2554

Matthias Rath (M)

Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, 17489 Greifswald, Germany.

Ute Felbor (U)

Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, 17489 Greifswald, Germany.

G Christoph Korenke (GC)

Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, 26133 Oldenburg, Germany.
ORCID: 0000-0003-4331-2453

Christopher L Smith (CL)

Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Division of Cardiology, Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA.
ORCID: 0000-0002-3837-8338

Kathleen H Wood (KH)

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
ORCID: 0000-0001-6566-4885

Sarah E Sheppard (SE)

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
ORCID: 0000-0003-3480-8123

Denise M Adams (DM)

Vascular Anomalies Centre, Division of Haematology/Oncology, Cancer and Blood Disorders Centre, Boston Children's Hospital, Boston, PA 02115, USA.
ORCID: 0000-0002-7450-4258

Ariana Kariminejad (A)

Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, Iran.
ORCID: 0000-0002-8467-4728

Raphael Helaers (R)

Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.
ORCID: 0000-0002-7046-7867

Laurence M Boon (LM)

Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.
Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium.
ORCID: 0000-0001-8273-3328

Nicole Revencu (N)

Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium.
Centre for Human Genetics, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium.
ORCID: 0000-0002-7120-4903

Lynette Moore (L)

Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
Anatomical Pathology, SA Pathology, 5000 Adelaide, Australia.
ORCID: 0000-0002-0487-3197

Christopher Barnett (C)

Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, 5006 Adelaide, South Australia, Australia.
ORCID: 0000-0003-1717-3824

Eric Haan (E)

Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.

Peer Arts (P)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
ORCID: 0000-0002-6742-6239

Miikka Vikkula (M)

Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.
Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium.
Centre for Human Genetics, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium.
Walloon Excellence in Life Sciences and Biotechnology, University of Louvain, 1200 Brussels, Belgium.
ORCID: 0000-0002-6236-338X

Hamish S Scott (HS)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
Department of Genetics and Molecular Pathology, SA Pathology, 5000 Adelaide, Australia.
ACRF Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
ORCID: 0000-0002-5813-631X

Natasha L Harvey (NL)

Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
ORCID: 0000-0001-9839-8966

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Pathogenic variants in
questionsmedicales.fr › Maladies de l'appareil respiratoire › Maladies de la plèvre › Chylothorax › Pathogenic variants in
questionsmedicales.fr › Cellules › Cellules épithéliales › Cellules endothéliales › Pathogenic variants in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Pathogenic variants in
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Oedème › Anasarque foetoplacentaire › Pathogenic variants in
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Système lymphatique › Vaisseaux lymphatiques › Pathogenic variants in
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Maladies lymphatiques › Lymphoedème › Pathogenic variants in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Pathogenic variants in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs de transcription à motif basique hélice-boucle-hélice › Facteurs de régulation myogènes › Pathogenic variants in
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Pathogenic variants in