G14258A-F3

**Figure 1\. Pedigree diagram for family G14258A\-F3\.**

![](/media/202606/20260630175415966258.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14258 | m.14258G\>A | G14258A\-F3 | Italy | LHON | 2 | 0 | 2018 | [29444077](https://pubmed.ncbi.nlm.nih.gov/29444077/) |  |

The **m.14258G\>A** variant in MT\-ND6 was reported in family G14258A\-F3 from Italy 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 lhon, bilateral optic nerve pallor and central scotoma.

# 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 | 14258 | m.14258G\>A | G14258A\-F3 | G14258A\-F3\-IV2 | Fam | ND | Y | Y | ND | ND | Homo | / | / | Homo (F) | LHON; bilateral optic nerve pallor and central scotoma | also carried m.10680G\>A and m.12033A\>G |
| 2 | 14258 | m.14258G\>A | G14258A\-F3 | G14258A\-F3\-III2 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 3 | 14258 | m.14258G\>A | G14258A\-F3 | G14258A\-F3\-IV1 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy |  |

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