Table 1 Summary of the phenotypic and genomic findings of the two cases
From: Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
Sample | Phenotype | Type | Zygosity | Depth read (DR/DV) | Cytoband | Genomic Position (GRCh38) | Target gene |
|---|---|---|---|---|---|---|---|
ANI-1 | Iris hypoplasia, congenital nystagmus, cataracts, PHVP | Inversion | HET | 17/47 | 11p13 | 11:31,795,178 | PAX6 (intron 7) |
11p12 | 11:36,791,763 | Intergenic region | |||||
ANI-2 | Aniridia (RE), iris coloboma (LE), congenital cataracts | Translocation | HET | 8/20 | 11p13 | 11:31,656,015 | ELP4 (HS2-PAX6) |
6p11.1 | 6:59,055,694 | Centromeric region (alpha-satellite DNA) |