High-resolution optical genome mapping unveils gene disruptions in a reciprocal chromosomal translocation and severe male infertility: a case report.

PURPOSE: This case report describes a 36-year-old male with primary infertility, associated with a balanced reciprocal translocation between chromosomes 1 and 7. The translocation was initially identified through constitutional karyotyping and further characterized using optical genome mapping (OGM).

METHODS

Optical genome mapping (OGM) an advanced genomic tool with high-resolution structural variant detection capabilities was used to further characterize the translocation.

RESULTS

OGM pinpointed specific breakpoints within the ASB17 gene on chromosome 1 and the INHBA-AS1 gene on chromosome 7, with potential regulatory effects on MSH4 and GLI3, genes involved in meiotic recombination and reproductive development.

CONCLUSIONS

This report explores the potential roles of these genes in spermatogenesis, discusses chromatin decondensation and interchromosomal effects as additional infertility mechanisms, and underscores the clinical value of OGM in reproductive genetics.