G11778A-F438

**Figure 1\. Pedigree diagram for family G11778A\-F438\.**

![](/media/202606/20260630171120221371.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\-F438 | China | LHON | 0 | 3 | 2016 | [26647310](https://pubmed.ncbi.nlm.nih.gov/26647310/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F438 from China with lhon. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon, vision\-impaired.

# 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\-F438 | G11778A\-F438\-II1 | Fam | M | Y | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ562\-II1 |
| 2 | 11778 | m.11778G\>A | G11778A\-F438 | G11778A\-F438\-III1 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ562\-III1 |
| 3 | 11778 | m.11778G\>A | G11778A\-F438 | G11778A\-F438\-IV1 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ562\-IV2 |
| 4 | 11778 | m.11778G\>A | G11778A\-F438 | G11778A\-F438\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ562\-II4 |

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