G11778A-F498

**Figure 1\. Pedigree diagram for family G11778A\-F498\.**

![](/media/202606/20260630171539972448.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\-F498 | Germany | LHON | 4 | 3 | 2016 | [27721048](https://pubmed.ncbi.nlm.nih.gov/27721048/) | Coexisting variant: T14484C |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F498 from Germany with lhon. The pedigree record reported 4 unaffected and 3 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was lhon, onset age 75, severe bilateral visual loss, onset age 6, moderate visual loss and partial optic atrophy, onset age 9, mild visual loss, migraine without aura noted.

# 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\-F498 | G11778A\-F498\-III1 | Fam | F | Y | Y | A | 76 | Homo | / | Homo | / | LHON, onset age 75, severe bilateral visual loss | Coexisting variant: T14484C |
| 2 | 11778 | m.11778G\>A | G11778A\-F498 | G11778A\-F498\-IV1 | Fam | F | N | Y | A | 46 | Homo | / | Homo | / | LHON, onset age 6, moderate visual loss and partial optic atrophy | Coexisting variant: T14484C |
| 3 | 11778 | m.11778G\>A | G11778A\-F498 | G11778A\-F498\-IV2 | Fam | F | N | Y | A | 36 | Homo | / | Homo | / | LHON, onset age 9, mild visual loss; migraine without aura noted | Coexisting variant: T14484C |

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