G8304A-F1

**Figure 1\. Pedigree diagram for family G8304A\-F1\.**

![](/media/202607/G8304A-F1-pedigree_20260701024555453597.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8304 | m.8304G\>A | G8304A\-F1 | United Kingdom | Epilepsy; ataxia; visual disturbance; deafness | 2 | 0 | 2013 | [23696415](https://pubmed.ncbi.nlm.nih.gov/23696415/) | Patient 6 in Table 1\. |

The **m.8304G\>A** variant in MT\-TK was reported in family G8304A\-F1 from United Kingdom with epilepsy; ataxia; visual disturbance; deafness. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was epilepsy, ataxia, visual disturbance, deafness.

# 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 | 8304 | m.8304G\>A | G8304A\-F1 | G8304A\-F1\-II1 | Fam | M | Y | Y | ND | 7 | 18% | 82% | 58% | / | Epilepsy; ataxia; visual disturbance; deafness | Patient 6 in Table 1\. |
| 2 | 8304 | m.8304G\>A | G8304A\-F1 | G8304A\-F1\-I1 | uninf | F | N | N | A | ND | 5% | / | 10% | / | Healthy | Unaffected mother tested positive in blood and urine. |
| 3 | 8304 | m.8304G\>A | G8304A\-F1 | G8304A\-F1\-II2 | Fam | F | N | N | A | ND | 0 | / | 0 | / | Healthy | Eligible tested\-negative child of target\-positive mother; blood and urine 0%. |

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