G10197A-F9

**Figure 1\. Pedigree diagram for family G10197A\-F9\.**

![](/media/202606/20260629232433609634.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10197 | m.10197G\>A | G10197A\-F9 | China | LHON, optic neuropathy, dystonia | 2 | 15 | 2008 | [19458970](https://pubmed.ncbi.nlm.nih.gov/19458970/) |  |

The **m.10197G\>A** variant in MT\-ND3 was reported in family G10197A\-F9 from China with lhon, optic neuropathy, dystonia. The pedigree record reported 2 unaffected and 15 affected maternal relatives, and the carrier table includes 18 listed carriers. Homoplasmy was reported in all listed carriers; 16/18 carriers were affected, and the main clinical manifestation among affected carriers was isolated optic neuropathy, sudden painless vision loss, right sensorineural deafness, spastic dystonia, lhon, gait, stiffness, athetosis.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-II1 | Fam | F | N | Y | A | 75 y | Homo | / | / | / | Isolated optic neuropathy, sudden painless vision loss, right sensorineural deafness |  |
| 2 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Isolated optic neuropathy |  |
| 3 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 4 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Isolated optic neuropathy |  |
| 5 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Isolated optic neuropathy |  |
| 6 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III4 | Fam | M | N | Y | A | ND | Homo | / | / | / | Isolated optic neuropathy |  |
| 7 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III5 | Fam | M | N | Y | A | ND | Homo | / | / | / | Isolated optic neuropathy |  |
| 8 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III6 | Fam | M | N | Y | A | ND | Homo | / | / | / | Isolated optic neuropathy |  |
| 9 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III7 | Fam | F | N | Y | A | ND | Homo | / | / | / | Isolated optic neuropathy |  |
| 10 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III8 | Fam | M | N | Y | A | ND | Homo | / | / | / | Spastic dystonia/LHON, gait/stiffness/athetosis, vision loss |  |
| 11 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III9 | Fam | M | Y | Y | A | 39 y | Homo | / | / | / | Severe LDYT/LHON, vision loss, generalized spastic dystonia, optic atrophy |  |
| 12 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-III10 | Fam | F | N | Y | A | ND | Homo | / | / | / | Clumsiness, unstable gait, stiffness, optic atrophy |  |
| 13 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-IV1 | Fam | F | N | Y | A | ND | Homo | / | / | / | Isolated optic neuropathy |  |
| 14 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-IV2 | Fam | M | N | Y | A | 19 y | Homo | / | / | / | LHON, vision loss tremor, hyperreflexia, Hoffman signs, unstable tandem gait |  |
| 15 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-IV3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 16 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-IV4 | Fam | F | N | Y | A | 22 y | Homo | / | / | / | Unstable gait, vision lossy, optic atrophy, macroglossia, athetosis/rigidity/hyperreflexia |  |
| 17 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-IV5 | Fam | F | N | Y | A | 20 y | Homo | / | / | / | Spastic dystonia, optic atrophy, spasticity, ankle clonus, athetosis, finger deformity, macroglossia, pes varus, forced crying |  |
| 18 | 10197 | m.10197G\>A | G10197A\-F9 | G10197A\-F9\-IV6 | Fam | M | N | Y | A | 18 y | Homo | / | / | / | Spastic gait |  |

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