G11778A-F399

**Figure 1\. Pedigree diagram for family G11778A\-F399\.**

![](/media/202606/20260630171000585727.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\-F399 | Japan | LHON plus olivocerebellar degeneration | 0 | 2 | 2012 | [23091534](https://pubmed.ncbi.nlm.nih.gov/23091534/) | Coexisting variant: T3394C |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F399 from Japan with lhon plus olivocerebellar degeneration. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was optic neuropathy, mild optic nerve, pons, and cerebellum atrophy, history of subarachnoid hemorrhage, lhon, visual and gait disturbance from age 10, dizziness.

# 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\-F399 | G11778A\-F399\-II1 | Fam | F | N | Y | A | ND | 70% | / | / | / | Optic neuropathy; mild optic nerve, pons, and cerebellum atrophy; history of subarachnoid hemorrhage | Coexisting variant: homoplasmic T3394C |
| 2 | 11778 | m.11778G\>A | G11778A\-F399 | G11778A\-F399\-III1 | Fam | M | Y | Y | A | 37 | 92% | / | / | / | LHON; visual and gait disturbance from age 10; dizziness; diplopia; gaze palsy; nystagmus; dysarthria; cerebellar ataxia; olivocerebellar degeneration | Coexisting variant: T3394C; Coexisting variant: Coexisting mutation\-load note: Proband III\-1; Coexisting variant: coexisting homoplasmic T3394C |

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