T3264C-F1

**Figure 1\. Pedigree diagram for family T3264C\-F1\.**

![](/media/202606/20260630210051541949.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3264 | m.3264T\>C | T3264C\-F1 | Japan | Diabetes | 8 | 4 | 1997 | [9203451](https://pubmed.ncbi.nlm.nih.gov/9203451/) |  |

The **m.3264T\>C** variant in MT\-TL1 was reported in family T3264C\-F1 from Japan with diabetes. The pedigree record reported 8 unaffected and 4 affected maternal relatives, and the carrier table includes 13 listed carriers. Homoplasmy was reported in 0/13 listed carriers; 5/13 carriers were affected, and the main clinical manifestation among affected carriers was diabetes, bilateral facial palsy, hearing loss.

# 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 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-I1 | Uninf | F | N | Y | D | 80 | / | / | / | / | Diabetes |  |
| 2 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-II2 | Fam | M | N | Y | D | 66 | / | / | / | / | Diabetes |  |
| 3 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-II3 | Fam | M | N | Y | D | 86 | / | / | / | / | Diabetes |  |
| 4 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-II5 | Fam | M | N | Y | D | 82 | / | / | / | / | Diabetes |  |
| 5 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-II13 | Fam | F | N | N | A | 73 | / | / | / | / | Healthy |  |
| 6 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-II15 | Fam | F | N | N | A | 71 | / | / | / | / | Healthy |  |
| 7 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-II18 | Fam | F | N | N | D | 36 | / | / | / | / | Healthy |  |
| 8 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-II19 | Fam | M | Y | Y | A | 50 | 0\.5% | 30% | / | / | Diabetes, bilateral facial palsy, hearing loss |  |
| 9 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-III22 | Fam | F | N | N | A | 47 | / | / | / | / | Healthy |  |
| 10 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-III23 | Fam | F | N | N | A | 45 | / | / | / | / | Healthy |  |
| 11 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-III24 | Fam | F | N | N | A | 43 | / | / | / | / | Healthy |  |
| 12 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-III25 | Fam | F | N | N | A | 45 | / | / | / | / | Healthy |  |
| 13 | 3264 | m.3264T\>C | T3264C\-F1 | T3264C\-F1\-III26 | Fam | M | N | N | A | 42 | / | / | / | / | Healthy |  |

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