G11778A-F614

**Figure 1\. Pedigree diagram for family G11778A\-F614\.**

![](/media/202606/20260630172642896859.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\-F614 | China | LHON | ND | 1 | 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\-F614 from China with lhon. The pedigree record reported ND unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 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\-F614 | G11778A\-F614\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: AH\-II2 |
| 2 | 11778 | m.11778G\>A | G11778A\-F614 | G11778A\-F614\-III1 | Fam | M | Y | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: AH\-III2 |

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