Ureteropelvic junction obstruction with primary lymphoedema associated with

Female Humans Male Cadherins / genetics Chromosome Deletion Chromosome Disorders / genetics Lymphedema / genetics
Genetics Hemic and Lymphatic Diseases Human Genetics Vascular Diseases

Journal

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

Informations de publication

Date de publication:
27 Nov 2023
Historique:
received: 19 01 2023
accepted: 07 05 2023
medline: 29 11 2023
pubmed: 25 5 2023
entrez: 24 5 2023
Statut: epublish

Résumé

Primary lymphoedema (PL) is a chronic, debilitating disease caused by developmental and functional defects of the lymphatic system. It is marked by an accumulation of interstitial fluid, fat and tissue fibrosis. There is no cure. More than 50 genes and genetic loci have been linked to PL. We sought to study systematically cell polarity signalling protein We investigated 742 index patients from our PL cohort using exome sequencing. We identified nine variants predicted to cause PL associated with a renal anomaly suggests a

Sections du résumé

BACKGROUND BACKGROUND
Primary lymphoedema (PL) is a chronic, debilitating disease caused by developmental and functional defects of the lymphatic system. It is marked by an accumulation of interstitial fluid, fat and tissue fibrosis. There is no cure. More than 50 genes and genetic loci have been linked to PL. We sought to study systematically cell polarity signalling protein
METHODS METHODS
We investigated 742 index patients from our PL cohort using exome sequencing.
RESULTS RESULTS
We identified nine variants predicted to cause
CONCLUSION CONCLUSIONS
PL associated with a renal anomaly suggests a

Identifiants

DOI: 10.1136/jmg-2023-109171 PMID: 37225411
pubmed: 37225411
pii: jmg-2023-109171
doi: 10.1136/jmg-2023-109171
doi:

Substances chimiques

Cadherins 0
CELSR1 cadherin, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1161-1168

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

Murat Alpaslan (M)

Human Molecular Genetics, de Duve Institute, Brussels, Belgium.
ORCID: 0000-0002-6684-341X

Sandrine Mestré-Godin (S)

Department of vascular medicine, CHU Montpellier, Montpellier, France.
IDESP - Institut Desbrest d'Épidémiologie et de Santé Publique, Montpellier, France.

Aurélie Lay (A)

Department of vascular medicine, CHU Montpellier, Montpellier, France.

Guido Giacalone (G)

Department of Lymphatic Surgery, VASCERN PPL European Reference Centre, General Hospital Sint-Maarten, Mechelen, Belgium.

Raphaël Helaers (R)

Human Molecular Genetics, de Duve Institute, Brussels, Belgium.

Salma Adham (S)

Department of vascular medicine, CHU Montpellier, Montpellier, France.
IDESP - Institut Desbrest d'Épidémiologie et de Santé Publique, Montpellier, France.
ORCID: 0000-0003-2955-0922

Hélène Kovacsik (H)

Department of vascular medicine, CHU Montpellier, Montpellier, France.

Sophie Guillemard (S)

Department of Nuclear Medicine, Montpellier Regional Cancer Institute, Montpellier, France.

Erick Mercier (E)

IDESP - Institut Desbrest d'Épidémiologie et de Santé Publique, Montpellier, France.
Hematology Laboratory, University Hospital Centre Nimes, Nimes, France.

Laurence Boon (L)

Human Molecular Genetics, de Duve Institute, Brussels, Belgium.
Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, Cliniques universitaires Saint-Luc, Brussels, Belgium.

Nicole Revencu (N)

Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, Cliniques universitaires Saint-Luc, Brussels, Belgium.

Pascal Brouillard (P)

Human Molecular Genetics, de Duve Institute, Brussels, Belgium.

Isabelle Quere (I)

Department of vascular medicine, CHU Montpellier, Montpellier, France.
IDESP - Institut Desbrest d'Épidémiologie et de Santé Publique, Montpellier, France.
ORCID: 0000-0002-1492-9764

Miikka Vikkula (M)

Human Molecular Genetics, de Duve Institute, Brussels, Belgium miikka.vikkula@uclouvain.be.
WELBIO, WEL Research Institute, Wavre, Belgium.
ORCID: 0000-0002-6236-338X

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Ureteropelvic junction obstruction with...
questionsmedicales.fr › Facteurs biologiques › Antigènes › Antigènes de surface › Molécules d'adhérence cellulaire › Cadhérines › Ureteropelvic junction obstruction with...
questionsmedicales.fr › Phénomènes génétiques › Ploïdies › Aneuploïdie › Monosomie › Délétion de segment de chromosome › Ureteropelvic junction obstruction with...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Ureteropelvic junction obstruction with...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Maladies lymphatiques › Lymphoedème › Ureteropelvic junction obstruction with...