A3243T-F2

**Figure 1\. Pedigree diagram for family A3243T\-F2\.**

![](/media/202606/20260630203125110476.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>T | A3243T\-F2 | UK | MELAS | 1 | 1 | 2025 | [40787093](https://pubmed.ncbi.nlm.nih.gov/40787093/) |  |

The **m.3243A\>T** variant in MT\-TL1 was reported in family A3243T\-F2 from UK with melas. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was hearing loss, cataracts, nyctalopia, pigmentary retinopathy, macular atrophy, rod\-cone dystrophy, macular dysfunction, exercise intolerance.

# 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 | 3243 | m.3243A\>T | A3243T\-F2 | A3243T\-F2\-I2 | Uninf | F | N | Y | A | ND | 6% | 26% | / | 14% (BM) | Hearing loss, cataracts, nyctalopia, pigmentary retinopathy, macular atrophy, rod\-cone dystrophy, macular dysfunction, exercise intolerance, progressive muscle weakness. |  |
| 2 | 3243 | m.3243A\>T | A3243T\-F2 | A3243T\-F2\-II1 | Fam | M | Y | Y | D | 9 | 45% | 82% | / | 61% (F), 83% (Renal tissue) | MELAS |  |
| 3 | 3243 | m.3243A\>T | A3243T\-F2 | A3243T\-F2\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |

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