T3291C-F6

**Figure 1\. Pedigree diagram for family T3291C\-F6\.**

![](/media/202606/20260630210859273246.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3291 | m.3291T\>C | T3291C\-F6 | China | MERRF/MELAS overlap syndrome | 2 | 0 | 2014 | [24338029](https://pubmed.ncbi.nlm.nih.gov/24338029/) |  |

The **m.3291T\>C** variant in MT\-TL1 was reported in family T3291C\-F6 from China with merrf/melas overlap syndrome. 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 merrf, melas overlap syndrome.

# 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 | 3291 | m.3291T\>C | T3291C\-F6 | T3291C\-F6\-I2 | Uninf | F | N | N | A | 48 | 46% | / | / | / | Healthy |  |
| 2 | 3291 | m.3291T\>C | T3291C\-F6 | T3291C\-F6\-II1 | Fam | F | Y | Y | A | 14 | 67% | 93% | / | 62% (F) | MERRF/MELAS overlap syndrome |  |
| 3 | 3291 | m.3291T\>C | T3291C\-F6 | T3291C\-F6\-II2 | Fam | F | N | N | A | 2\.5 | 50% | / | / | / | Healthy |  |

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