G11778A-F107

**Figure 1\. Pedigree diagram for family G11778A\-F107\.**

![](/media/202606/20260630163202966951.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 | 11778 | m.11778G\>A | G11778A\-F107 | Finland | LHON | ND | ND | 1994 | [8118464](https://pubmed.ncbi.nlm.nih.gov/8118464/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F107 from Finland with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 1/7 listed carriers; 1/7 carriers were affected, and the main clinical manifestation among affected carriers was optic atrophy.

# 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 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-III1 | Fam | F | N | N | ND | ND | \>95% mutant | / | / | / | Peripapillary microangiopathy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-III2 | Fam | M | N | N | ND | ND | 33% mutant (TRF); 30% mutant (Southern) | / | / | / | No known defect |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-III3 | Fam | M | N | N | ND | ND | 11% mutant (TRF); 15% mutant (Southern) | / | / | / | No known defect |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-IV1 | Fam | M | N | N | ND | ND | Homo | / | / | / | No known defect |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-IV2 | Fam | M | Y | Y | ND | ND | \>95% mutant | / | / | / | Optic atrophy |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-V1 | Fam | M | N | N | ND | ND | 36% mutant (TRF); 35% mutant (Southern) | / | / | / | No known defect |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-V2 | Fam | M | N | N | ND | ND | 57% mutant (TRF); 60% mutant (Southern) | / | / | / | No known defect |  |

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