G11778A-F6

**Figure 1\. Pedigree diagram for family G11778A\-F6\.**

![](/media/202606/20260630155229104465.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\-F6 | Australia | LHON | 45 | 29 | 1992 | [1352537](https://pubmed.ncbi.nlm.nih.gov/1352537/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F6 from Australia with lhon. The pedigree record reported 45 unaffected and 29 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 6/7 listed carriers; 5/7 carriers were affected, and the main clinical manifestation among affected carriers was lhon.

# 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\-F6 | G11778A\-F6\-III1 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: III\-13 |
| 2 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-IV1 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: IV\-12 |
| 3 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-V1 | Fam | ND | N | N | ND | ND | Heteroplasmic | / | / | / | Healthy | Original carrier identifier: V\-9 |
| 4 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-VI1 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier identifier: VI\-5 |
| 5 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-VI2 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: VI\-11 |
| 6 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-VI3 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: VI\-17 |
| 7 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-VI4 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: VI\-18 |

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