G11778A-F612

**Figure 1\. Pedigree diagram for family G11778A\-F612\.**

![](/media/202606/20260630172554964948.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\-F612 | China | LHON | 7 | 13 | 2020 | [32516135](https://pubmed.ncbi.nlm.nih.gov/32516135/) | Coexisting variant: Coexisting nuclear modifier: PRICKLE3 c.157C\>T (p.Arg53Trp) |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F612 from China with lhon. The pedigree record reported 7 unaffected and 13 affected maternal relatives, and the carrier table includes 16 listed carriers. Homoplasmy was reported in 0/16 listed carriers; 14/16 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\-F612 | G11778A\-F612\-I1 | Uninf | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-I2 |
| 2 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-II2 |
| 3 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III1 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III2 |
| 4 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III2 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III3 |
| 5 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-II4 |
| 6 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III3 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III4 |
| 7 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III4 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III5 |
| 8 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II3 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-II6 |
| 9 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II4 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-II8 |
| 10 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III5 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III8 |
| 11 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: SD1\-II9 |
| 12 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III6 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III10 |
| 13 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III7 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III12 |
| 14 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III8 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III13 |
| 15 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III9 | Fam | M | Y | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III14 |
| 16 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III10 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: SD1\-III15 |

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