G11778A-F76

**Figure 1\. Pedigree diagram for family G11778A\-F76\.**

![](/media/202606/20260630160251895061.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\-F76 | UK | LHON | 8 | 1 | 1995 | [2575667](https://pubmed.ncbi.nlm.nih.gov/2575667/) | Paper family E |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F76 from UK with lhon. The pedigree record reported 8 unaffected and 1 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in 0/10 listed carriers; 2/10 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual loss.

# 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\-F76 | G11778A\-F76\-II1 | Fam | F | N | N | ND | 66 | \>95% | / | / | / | Healthy | Original carrier identifier: Family E case 8 |
| 2 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III1 | Fam | M | Y | Y | ND | 32 | \>95% | / | / | / | LHON; visual loss | Original carrier identifier: Family E case 9 |
| 3 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III2 | Fam | M | N | N | ND | 30 | \>95% | / | / | / | Healthy | Original carrier identifier: Family E case 10 |
| 4 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III3 | Fam | M | N | N | ND | 28 | \>95% | / | / | / | Healthy | Original carrier identifier: Family E case 11 |
| 5 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III4 | Fam | M | N | N | ND | 27 | 77% | / | / | / | Healthy | Original carrier identifier: Family E case 12 |
| 6 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III5 | Fam | F | N | N | ND | 24 | \>95% | / | / | / | Healthy | Original carrier identifier: Family E case 13 |
| 7 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-II2 | Fam | F | N | N | ND | 60 | 97% | / | / | / | Healthy | Original carrier identifier: Family E case 14 |
| 8 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III6 | Fam | M | N | Y | ND | 23 | 96% | / | / | / | LHON; visual loss | Original carrier identifier: Family E case 15 |
| 9 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-II3 | Fam | F | N | N | ND | 56 | 79% | / | / | / | Healthy | Original carrier identifier: Family E case 16 |
| 10 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III7 | Fam | M | N | N | ND | 22 | 68% | / | / | / | Healthy | Original carrier identifier: Family E case 17 |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).