G9804A-F3

**Figure 1\. Pedigree diagram for family G9804A\-F3\.**

![](/media/202606/8e0a37b6a71e46b8845e7ff1b828d11d2452.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9804 | m.9804G\>A | G9804A\-F3 | Germany | multiple sclerosis context; candidate LHON\-related mutation | 1 | 0 | 2016 | [27119776](https://pubmed.ncbi.nlm.nih.gov/27119776/) |  |

The **m.9804G\>A** variant in MT\-CO3 was reported in family G9804A\-F3 from Germany with multiple sclerosis context; candidate lhon\-related mutation. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was ms\-affected cotwin, no optic neuropathy reported.

# 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 | 9804 | m.9804G\>A | G9804A\-F3 | G9804A\-F3\-I1 | Uninf | ND | Y | Y | ND | ND | 2\.8% | / | / | 6\.9%(BM) | MS\-affected cotwin; no optic neuropathy reported |  |
| 2 | 9804 | m.9804G\>A | G9804A\-F3 | G9804A\-F3\-II1 | Uninf | ND | N | N | ND | ND | 2\.7% | / | / | 0\.1%(BM) | Nonaffected cotwin |  |

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