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