G11778A-F563

**Figure 1\. Pedigree diagram for family G11778A\-F563\.**

![](/media/202606/20260630172145451784.png)

|  |
| --- |

# 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\-F563 | China | LHON | ND | ND | 2018 | [29649796](https://pubmed.ncbi.nlm.nih.gov/29649796/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F563 from China with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 8/8 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\-F563 | G11778A\-F563\-II1 | Uninf | M | N | Y | A | 10 | / | / | / | / | LHON | Treatment history: therapy age 10 |
| 2 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II2 | Uninf | M | N | Y | A | 9 | / | / | / | / | LHON | Treatment history: therapy age 9 |
| 3 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II3 | Uninf | M | N | Y | A | 21 | / | / | / | / | LHON | Treatment history: therapy age 21 |
| 4 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II4 | Uninf | M | N | Y | A | 17 | / | / | / | / | LHON | Treatment history: therapy age 17 |
| 5 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II5 | Uninf | F | N | Y | A | 9 | / | / | / | / | LHON | Treatment history: therapy age 9 |
| 6 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II6 | Uninf | F | N | Y | A | 26 | / | / | / | / | LHON | Treatment history: therapy age 26 |
| 7 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II7 | Uninf | M | N | Y | A | 17 | / | / | / | / | LHON | Treatment history: therapy age 17 |
| 8 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II8 | Uninf | M | N | Y | A | 46 | / | / | / | / | LHON | Treatment history: therapy age 46 |

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