G11778A-F544

**Figure 1\. Pedigree diagram for family G11778A\-F544\.**

![](/media/202606/20260630171707370087.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\-F544 | China | LHON | 1 | 3 | 2017 | [29116953](https://pubmed.ncbi.nlm.nih.gov/29116953/) | Paper family 1 |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F544 from China with lhon. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 4/5 carriers were affected, and the main clinical manifestation among affected carriers was lhon, onset 13 y, visual acuity 0\.2, 0\.1, mild impairment, onset 11 y, visual acuity 0\.3, 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\-F544 | G11778A\-F544\-II1 | Fam | F | N | N | A | 51 | Homo | / | / | / | Healthy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F544 | G11778A\-F544\-III1 | Fam | M | N | Y | A | 30 | Homo | / | / | / | LHON; onset 13 y; visual acuity 0\.2/0\.1; mild impairment |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F544 | G11778A\-F544\-III2 | Fam | F | N | Y | A | 27 | Homo | / | / | / | LHON; onset 11 y; visual acuity 0\.3/0\.2; mild impairment |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F544 | G11778A\-F544\-III3 | Fam | F | N | Y | A | 28 | Homo | / | / | / | LHON; onset 10 y; visual acuity 0\.6/0\.3; mild impairment |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F544 | G11778A\-F544\-III4 | Fam | M | Y | Y | A | 27 | Homo | / | / | / | LHON; onset 13 y; visual acuity 0\.1/0\.02; moderate/severe impairment |  |

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