G11778A-F68

**Figure 1\. Pedigree diagram for family G11778A\-F68\.**

![](/media/202606/20260630160126472139.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\-F68 | Netherlands | LHON | ND | ND | 1990 | [2390098](https://pubmed.ncbi.nlm.nih.gov/2390098/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F68 from Netherlands with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was severe visual loss, visual acuity 0\.125, 0\.02, visual acuity 0\.02\.

# 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\-F68 | G11778A\-F68\-II1 | Fam | F | N | N | A | ND | 60% | / | / | / | Healthy | Original carrier identifier: Fig |
| 2 | 11778 | m.11778G\>A | G11778A\-F68 | G11778A\-F68\-II2 | Fam | F | N | N | A | ND | 55% | / | / | / | Healthy | Original carrier identifier: Fig |
| 3 | 11778 | m.11778G\>A | G11778A\-F68 | G11778A\-F68\-II3 | Fam | M | Y | Y | A | ND | \>95% | / | / | / | Severe visual loss; visual acuity 0\.125/0\.02 | Original carrier identifier: son 1 |
| 4 | 11778 | m.11778G\>A | G11778A\-F68 | G11778A\-F68\-II4 | Fam | M | N | Y | A | ND | \>95% | / | / | / | Severe visual loss; visual acuity 0\.02/0\.02 | Original carrier identifier: son 2 |

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