G11778A-F329

**Figure 1\. Pedigree diagram for family G11778A\-F329\.**

![](/media/202606/20260630165559978172.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\-F329 | China | LHON | 5 | 7 | 2006 | [16431939](https://pubmed.ncbi.nlm.nih.gov/16431939/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F329 from China with lhon. The pedigree record reported 5 unaffected and 7 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon, onset age 12, painless progressive bilateral visual impairment, profound visual loss.

# 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\-F329 | G11778A\-F329\-III1 | Fam | M | Y | Y | A | 18 | Homo | / | / | / | LHON; onset age 12; painless progressive bilateral visual impairment; profound visual loss | Coexisting variant: A4435G |
| 2 | 11778 | m.11778G\>A | G11778A\-F329 | G11778A\-F329\-II1 | Fam | F | N | N | A | 46 | Homo | / | / | / | Healthy | Coexisting variant: A4435G |
| 3 | 11778 | m.11778G\>A | G11778A\-F329 | G11778A\-F329\-III2 | Fam | M | N | N | A | 7 | Homo | / | / | / | Healthy | Coexisting variant: A4435G |
| 4 | 11778 | m.11778G\>A | G11778A\-F329 | G11778A\-F329\-II2 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy |  |

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