G11778A-F609

**Figure 1\. Pedigree diagram for family G11778A\-F609\.**

![](/media/202606/20260630172528596155.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\-F609 | China | LHON | 4 | 3 | 2020 | [31939618](https://pubmed.ncbi.nlm.nih.gov/31939618/) | Coexisting variant: m.5601C\>T |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F609 from China with lhon. The pedigree record reported 4 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon, onset 11 y, visual acuity 0\.03, 0\.05, severe impairment, onset 16 y, visual acuity 0\.1, 0\.2\.

# 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\-F609 | G11778A\-F609\-II1 | Fam | M | N | Y | A | 35 | Homo | / | / | / | LHON; onset 11 y; visual acuity 0\.03/0\.05; severe impairment |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F609 | G11778A\-F609\-II2 | Fam | M | N | Y | A | 33 | Homo | / | / | / | LHON; onset 16 y; visual acuity 0\.1/0\.2; moderate impairment |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F609 | G11778A\-F609\-II3 | Fam | F | Y | Y | A | 39 | Homo | / | / | / | LHON; onset 19 y; visual acuity 0\.01/0\.01; profound impairment |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F609 | G11778A\-F609\-III1 | Fam | M | N | Y | A | 7 | Homo | / | / | / | LHON; onset 3 y; visual acuity 0\.02/0\.01; profound impairment |  |

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