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

ConclusionWhile both genes may contribute to the phenotype, the Meiosis I abnormalities in the conceptions favor the causal role ofHORMAD2 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.

Source: Molecular Genetics & Genomic Medicine - February 24, 2024 Category: Genetics & Stem Cells Authors: Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim Tags: ORIGINAL ARTICLE Source Type: research