Exonic copy number variations in rare genetic disorders

• 영문명: Exonic copy number variations in rare genetic disorders
• 발행기관: 대한의학유전학회
• 저자명: Man Jin Kim
• 간행물 정보: 『대한의학유전학회지』제20권 제2호, 46~51쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2023.12.31

영문 초록

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.

목차

Introduction

The Concept and Characteristics of Exonic CNVs

Interrogating Recurrent Exonic CNVs

Diagnosis and Genetic Testing of Exonic CNVs

Conclusion

Acknowledgements

Funding

References

키워드

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