Abstract
Purpose :
In East Asian, the causative variants in North Carolina Macular Dystrophy (NCMD) were rarely reported. Herein, we investigate molecular causes of NCMD in 2 Korean families.
Methods :
Two Korean families with a diagnosis of NCMD were recruited from Yonsei University Severance Hospital and Seoul National University Bundang Hospital. Genome sequencing was performed, and small nucleotide variant and indel was called by DRAGEN-GATK best practice. Structural variant was assessed by ClinSV program. The genomic regions associated with NCMD encompassing PRDM13, IRX1, and its upstream regions were selected, and SNV and small indels were filtered based on gnomAD v.1.3.2 minor allele frequency (0.005%) and zygosity (heterozygous). Functional annotation of non-coding variant using DVAR, ncER, FATHMM-XF, and ReMM were used.
Results :
Two Korean families with a diagnosis of NCMD were recruited from Yonsei University Severance Hospital and Seoul National University Bundang Hospital. Genome sequencing was performed, and small nucleotide variant and indel was called by DRAGEN-GATK best practice. Structural variant was assessed by ClinSV program. The genomic regions associated with NCMD encompassing PRDM13, IRX1, and its upstream regions were selected, and SNV and small indels were filtered based on gnomAD v.1.3.2 minor allele frequency (0.005%) and zygosity (heterozygous). Functional annotation of non-coding variant using DVAR, ncER, FATHMM-XF, and ReMM were used.
Conclusions :
We identified two novel variants in NCMD in East Asians and provided further evidences in regulatory role in upstream region of PRDM13.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.