G11778A-F248

**Figure 1\. Pedigree diagram for family G11778A\-F248\.**

![](/media/202606/20260630165007383723.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\-F248 | USA | LHON | ND | ND | 2002 | [12464729](https://pubmed.ncbi.nlm.nih.gov/12464729/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F248 from USA with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual loss onset age 29, va 20, 400 ou, visual loss onset age 24, bilateral 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\-F248 | G11778A\-F248\-II1 | Fam | F | N | N | A | ND | 23% | / | / | / | Healthy | Coexisting variant: T14484C |
| 2 | 11778 | m.11778G\>A | G11778A\-F248 | G11778A\-F248\-III1 | Fam | ND | N | ND | A | ND | 35% | / | / | / | ND | Coexisting variant: T14484C |
| 3 | 11778 | m.11778G\>A | G11778A\-F248 | G11778A\-F248\-III2 | Fam | F | N | Y | A | 29 | 77% | / | / | / | LHON; visual loss onset age 29; VA 20/400 OU | Coexisting variant: T14484C |
| 4 | 11778 | m.11778G\>A | G11778A\-F248 | G11778A\-F248\-III3 | Fam | M | N | Y | A | 24 | 42% | / | / | / | LHON; visual loss onset age 24; VA 20/400 OU | Coexisting variant: T14484C |
| 5 | 11778 | m.11778G\>A | G11778A\-F248 | G11778A\-F248\-IV1 | Fam | F | Y | Y | A | 23 | 71% | / | / | / | LHON; bilateral visual loss | Coexisting variant: T14484C |

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