Table 3 of Gaier, Mol Vis 2017; 23:548-560.


Table 3. Summary of OPA1 Copy Number Variants (CNVs).

N OPA1 CNV CNV size and genomic location Reference Neurologic Symptoms
Minimum Maximum
2 Deletion, Whole Gene Unable to determine, all OPA1 probes deleted Unable to determine, all OPA1 probes deleted [38] None
1 Deletion, Intron 1-Exon 31 Chr3:193,331,962–193,412,551 Chr3:193,311,286-NA* Novel; Similar in [38]] Transient Hemiplegia
1 Deletion, Exons 1–28 Chr3:193,311,286–193,384,111 NA**-Chr3:193,384,911 Novel; Similar in [38]] None
1 Deletion, Exons 26–28 Chr3:193,380,681–193,384,111 Chr3:193,377,299–193,384,911 Novel; Similar in [23] None
1 Insertion, Exon 18 Chr3:193,363,781–193,363,804 Chr3:193,362,732–193,364,928 Novel Hearing Loss