G14279A-F1

**Figure 1\. Pedigree diagram for family G14279A\-F1\.**

![](/media/202606/20260630182232957202.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14279 | m.14279G\>A | G14279A\-F1 | Russia | LHON | 2 | 0 | 2005 | [15922297](https://pubmed.ncbi.nlm.nih.gov/15922297/) |  |

The **m.14279G\>A** variant in MT\-ND6 was reported in family G14279A\-F1 from Russia with lhon. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was painless bilateral blurred vision, optic disc hyperemia, swelling, hemorrhages, temporal optic disc pallor, absolute central scotomas, reduced color vision.

# 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 | 14279 | m.14279G\>A | G14279A\-F1 | G14279A\-F1\-IV2 | Fam | M | Y | Y | A | 16 | Homo | / | / | / | Painless bilateral blurred vision, optic disc hyperemia/swelling, hemorrhages, temporal optic disc pallor, absolute central scotomas, reduced color vision | Original label IV\-2 |
| 2 | 14279 | m.14279G\>A | G14279A\-F1 | G14279A\-F1\-III4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original label III\-4 |
| 3 | 14279 | m.14279G\>A | G14279A\-F1 | G14279A\-F1\-II4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original label II\-4 |

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