Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.
KCNQ1
exome
long‐QT syndrome
miscarriage
recurrent pregnancy loss
Journal
Journal of the American Heart Association
ISSN: 2047-9980
Titre abrégé: J Am Heart Assoc
Pays: England
ID NLM: 101580524
Informations de publication
Date de publication:
07 09 2021
07 09 2021
Historique:
pubmed:
17
8
2021
medline:
5
1
2022
entrez:
16
8
2021
Statut:
ppublish
Résumé
Background Recurrent pregnancy loss affects 1% to 2% of couples attempting childbirth. A large fraction of all cases remains idiopathic, which warrants research into monogenic causes of this distressing disorder. Methods and Results We investigated a nonconsanguineous Estonian family who had experienced 5 live births, intersected by 3 early pregnancy losses, and 6 fetal deaths, 3 of which occurred during the second trimester. No fetal malformations were described at the autopsies performed in 3 of 6 cases of fetal death. Parental and fetal chromosomal abnormalities (including submicroscopic) and maternal risk factors were excluded. Material for genetic testing was available from 4 miscarried cases (gestational weeks 11, 14, 17, and 18). Exome sequencing in 3 pregnancy losses and the mother identified no rare variants explicitly shared by the miscarried conceptuses. However, the mother and 2 pregnancy losses carried a heterozygous nonsynonymous variant, resulting in p.Val173Asp (
Identifiants
pubmed: 34398675
doi: 10.1161/JAHA.121.021236
pmc: PMC8649249
doi:
Substances chimiques
KCNQ1 Potassium Channel
0
KCNQ1 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e021236Subventions
Organisme : NIGMS NIH HHS
ID : P50 GM115305
Pays : United States
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