A14693G-F2

**Figure 1\. Pedigree diagram for family A14693G\-F2\.**

![](/media/202606/20260626170305378354.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14693 | m.14693A\>G | A14693G\-F2 | China | Leber's hereditary optic neuropathy | 4 | 2 | 2007 | [17434142](https://pubmed.ncbi.nlm.nih.gov/17434142/) | Carrying G3460A |

The **m.14693A\>G** variant in MT\-TE was reported in family A14693G\-F2 from China with leber's hereditary optic neuropathy. The pedigree record reported 4 unaffected and 2 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 4/5 listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was bilateral progressive visual loss, central visual shadow, color vision defect, severe bilateral central visual loss, typical lhon fundus changes, progressive bilateral optic atrophy, central visual field defect.

# 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 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-III1 | Fam | M | Y | Y | A | 14 | Homo | / | / | / | Bilateral progressive visual loss, central visual shadow, color vision defect | Carrying G3460A |
| 2 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-II2 | Fam | F | N | Y | A | 12 | Homo | / | / | / | severe bilateral central visual loss, typical LHON fundus changes | Carrying G3460A |
| 3 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-II6 | Fam | F | N | Y | A | 16 | Homo | / | / | / | progressive bilateral optic atrophy, central visual field defect | Carrying G3460A |
| 4 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-II4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying G3460A |
| 5 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |

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