MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans
Abstract
Recurrent idiopathic severe fetal structural anomalies present major challenges for reproductive decision-making and genetic counselling. A non-consanguineous healthy Estonian couple had experienced two electively terminated pregnancies at 12–13 weeks’ gestation due to unexplained major fetal malformations and one early miscarriage. Their three pregnancies had resulted in unaffected newborns. Exome sequencing of fetal tissues from both terminated pregnancies identified a homozygous rare missense variant in MGRN1 (mahogunin ring finger 1), c.881G>A, p.(Arg294His) (Genome Aggregation Database V.4.1.0 allele frequency
Fields of Study & Subjects
Congenital heart defects research
Genomics and Rare Diseases
Cardiac electrophysiology and arrhythmias
Publication details
- Journal / source
- Journal of Medical Genetics
- Volume
- 63
- Issue
- 6
- Pages
- 410–414
- Publication date
- 4 March 2026
- Language
- EN