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Correspondence to Author: Carmen Orellana, Monica Rosello, Amparo Sanchis, Laia Pedrola, Carla Martín-GrauAlba Gabaldón-Albero. 

Kayseri City Training and Research Hospital, Pediatric Endocrinology Kayseri , Turkey.

Abstract:

Though up to 50% of cases cannot be identified by standard diagnostic techniques, rare diseases (RDs) frequently have a genetic foundation. Balanced rearrangements are among the structural variants (SVs) that often avoid identification by exome sequencing, microarray, and karyotyping. In this investigation, optical genome mapping was used. (OGM) to look into two RD patients whose genetic cause was still unknown after earlier genomic testing. The BCL11A gene was disrupted by a balanced reciprocal translocation in Patient 1, which is linked to Dias-Logan syndrome.Patient 2’s ectopic enhancer-promoter interactions and polydactyly, which mirrored characteristics seen in rodent models and comparable human instances, were caused by a mosaic 682 kb deletion close to the IHH gene.
These results demonstrate the effectiveness of OGM in detecting intricate SVs and highlight new pathogenic processes in uncommon genetic illnesses. As a result, adding OGM to standard diagnostic processes will improve genetic identification, identify novel syndromes with unclear causes, and ultimately better the clinical care of many patients with uncommon diseases.

Keywords:optical genome mapping; structural variants; balanced translocation; enhancer–promoter interactions; congenital malformations; IHH; BCL11A.

Citation:

Dr.Carmen Orellana, Utility Of Optical Genome Mapping For Accurate Detection And Fine-Mapping Of Structural Variants In Elusive Rare Diseases. World Journal of Human Genetics 2025.