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

ABSTRACT:

Background

Recurrent miscarriage (RM) affects 1% to 5% of couples trying to conceive. Despite extensive clinical and laboratory testing, half of the RM cases remain unexplained. We report the genetic analysis of a couple with eight miscarriages and the search for their potential genetic etiology.

Methods

Short tandem repeat (STR) markers, single nucleotide polymorphic (SNP) microarray, and human DNA methylation microarray were used to analyze the genotypes of two miscarriages. Exomes sequencing was performed on DNA from the two partners and identified variants were validated by Sanger sequencing.

Results

STR marker genotyping demonstrated that the two available miscarriages are triploid digynic and resulted from the failure of Meiosis II. SNP microarray analysis revea

SUBMITTER: Liang M 

PROVIDER: S-EPMC10891434 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature