J Genet Med.  2023 Dec;20(2):46-51. 10.5734/JGM.2023.20.2.46.

Exonic copy number variations in rare genetic disorders

• Kim MJ

• KMID: 2550314
• DOI: http://doi.org/10.5734/JGM.2023.20.2.46

Abstract

Exonic copy number variation (CNV), involving deletions and duplications at the gene’s exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnicallyspecific therapeutic interventions.

Keyword

DNA copy number variations; Genetic diseases; inborn; High-throughput nucleotide sequencing; Pathology; molecular