G11778A-F451

**Figure 1\. Pedigree diagram for family G11778A\-F451\.**

![](/media/202606/20260630171503985162.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\-F451 | Germany | Multiple sclerosis; CIS | 1 | 2 | 2016 | [27119776](https://pubmed.ncbi.nlm.nih.gov/27119776/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F451 from Germany with multiple sclerosis; cis. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was ms, disease manifestation 1989, spms since 2008, no lhon optic neuropathy, cis, first manifestation 2011, cis after reassessment, mri lesions.

# 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\-F451 | G11778A\-F451\-I1 | Uninf | F | N | N | A | ND | 23\.3% | / | / | / | Healthy |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F451 | G11778A\-F451\-II1 | Fam | F | N | Y | A | 47 years | 13\.5% | / | / | 6\.5%(BM) | MS; disease manifestation 1989; SPMS since 2008; no LHON optic neuropathy |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F451 | G11778A\-F451\-II2 | Fam | F | Y | Y | A | 41 years | 58\.2% | / | 61\.9% | 61\.9%(BM) | CIS; first manifestation 2011; no LHON optic neuropathy | Original carrier identifier: MS\-cotwin |
| 4 | 11778 | m.11778G\>A | G11778A\-F451 | G11778A\-F451\-II3 | Fam | F | N | Y | A | 41 years | 46\.9% | / | 56\.4% | 52\.6%(BM) | CIS after reassessment; MRI lesions, CSF pleocytosis and oligoclonal bands; no LHON optic neuropathy | Original carrier identifier: reassessed\-cotwin |

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