PMC3566897_01
Segregation analysis of Optic Atrophy 1 mutations in three families with dominant optic atrophy. Circles represent women, and squares represent men. Two circles and a square filled in black indicate probands with suspected hereditary optic atrophy. Circles and squares filled with lines show carriers with Optic Atrophy 1 (OPA1) variants. Proband le2028 is compound heterozygous for OPA1 mutations. The father has a c.190_194del mutation in exon 2, and the mother has a c.1129G>A in exon 11. Both mutations transmitted to their son. Proband le1432 inherited a c.2389A>G mutation from her father. Proband le2062 inherited a c.2708_2711del mutation from her mother. The mutational sites are indicated with an asterisk, and amino acid codes are depicted with a line.
mv-v19-292-f2.jpg
PMC3566897_02_mv-v19-292-f2.jpg
f2
Additional segregation analysis of the mutations was performed in two sporadic cases, i.e., le1432 and le2062, through contact tracing of the OPA1-positive probands (Figure 2).
PMC3566897_02
Segregation analysis of Optic Atrophy 1 mutations in three families with dominant optic atrophy. Circles represent women, and squares represent men. Two circles and a square filled in black indicate probands with suspected hereditary optic atrophy. Circles and squares filled with lines show carriers with Optic Atrophy 1 (OPA1) variants. Proband le2028 is compound heterozygous for OPA1 mutations. The father has a c.190_194del mutation in exon 2, and the mother has a c.1129G>A in exon 11. Both mutations transmitted to their son. Proband le1432 inherited a c.2389A>G mutation from her father. Proband le2062 inherited a c.2708_2711del mutation from her mother. The mutational sites are indicated with an asterisk, and amino acid codes are depicted with a line.
mv-v19-292-f2.jpg
PMC3566897_02_mv-v19-292-f2.jpg
f2
Additional segregation analysis of the mutations was performed in two sporadic cases, i.e., le1432 and le2062, through contact tracing of the OPA1-positive probands (Figure 2).