G11778A-F340

**Figure 1\. Pedigree diagram for family G11778A\-F340\.**

![](/media/202606/20260630165947871665.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\-F340 | Thailand | LHON | ND | ND | 2006 | [17072496](https://pubmed.ncbi.nlm.nih.gov/17072496/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F340 from Thailand with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 30 listed carriers. Homoplasmy was reported in 20/30 listed carriers; 9/30 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\-F340 | G11778A\-F340\-II1 | Fam | ND | N | ND | ND | ND | 44% | / | / | / | Possible fundus abnormality/no vision loss |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II2 | Fam | ND | N | Y | ND | ND | 85% | / | / | / | LHON |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II3 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II4 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II5 | Fam | ND | N | N | ND | ND | 46% | / | / | / | Healthy |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II6 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II7 | Fam | ND | N | N | ND | ND | 31% | / | / | / | Healthy |  |
| 8 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II8 | Fam | ND | N | N | ND | ND | 26% | / | / | / | Healthy |  |
| 9 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II9 | Fam | ND | N | N | ND | ND | 23% | / | / | / | Healthy |  |
| 10 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II10 | Fam | ND | N | Y | ND | ND | 99% | / | / | / | LHON |  |
| 11 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II11 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON |  |
| 12 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II12 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 13 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II13 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON |  |
| 14 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II14 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON |  |
| 15 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II15 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON |  |
| 16 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II16 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 17 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II17 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 18 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II18 | Fam | ND | N | N | ND | ND | 70% | / | / | / | Healthy |  |
| 19 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II19 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON |  |
| 20 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II20 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 21 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II21 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 22 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II22 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 23 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II23 | Fam | ND | N | N | ND | ND | 7% | / | / | / | Healthy |  |
| 24 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II24 | Fam | ND | N | N | ND | ND | 42% | / | / | / | Healthy |  |
| 25 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II25 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 26 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II26 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 27 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II27 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 28 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II28 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 29 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II29 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 30 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II30 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy |  |

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