A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.

Manqi LiangBeena SureshEric BarekeSanaa ChoufaniSujatha JagadeeshRosanna WeksbergJacek MajewskiRima Slim

Published in: Molecular genetics & genomic medicine (2024)

While both genes may contribute to the phenotype, the Meiosis I abnormalities in the conceptions favor the causal role of HORMAD2 in the etiology of RM in this couple. This report illustrates the importance of comprehensively analyzing the products of conception to guide the search for the genetic causation of RM.

Keyphrases

genome wide
case report
copy number
bioinformatics analysis
genome wide identification
transcription factor