Biallelic
female urogenital diseases and pregnancy complications
genetics
loss of function mutation
medical
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
01 2023
01 2023
Historique:
received:
02
09
2021
accepted:
09
11
2021
pubmed:
9
12
2021
medline:
28
12
2022
entrez:
8
12
2021
Statut:
ppublish
Résumé
Hydrops fetalis, a pathological fluid accumulation in two or more body compartments, is aetiologically heterogeneous. We investigated a consanguineous family with recurrent pregnancy loss due to severe early-onset non-immune hydrops fetalis. Whole exome sequencing in four fetuses with hydrops fetalis revealed that they were homozygous for the angiopoietin-2 ( Pathogenic heterozygous
Sections du résumé
BACKGROUND
Hydrops fetalis, a pathological fluid accumulation in two or more body compartments, is aetiologically heterogeneous. We investigated a consanguineous family with recurrent pregnancy loss due to severe early-onset non-immune hydrops fetalis.
METHODS AND RESULTS
Whole exome sequencing in four fetuses with hydrops fetalis revealed that they were homozygous for the angiopoietin-2 (
CONCLUSION
Pathogenic heterozygous
Identifiants
pubmed: 34876502
pii: jmedgenet-2021-108179
doi: 10.1136/jmedgenet-2021-108179
pmc: PMC9811075
doi:
Substances chimiques
Angiopoietin-2
0
ANGPT2 protein, human
0
Codon, Nonsense
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
57-64Informations de copyright
© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: PB has received support from Belgian Fonds de la Recherche Scientifique for attending meetings and/or travel.
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