T3271C-F5

**Figure 1\. Pedigree diagram for family T3271C\-F5\.**

![](/media/202606/20260630210319548541.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3271 | m.3271T\>C | T3271C\-F5 | Finland | MELAS | 4 | 0 | 2005 | [16006433](https://pubmed.ncbi.nlm.nih.gov/16006433/) |  |

The **m.3271T\>C** variant in MT\-TL1 was reported in family T3271C\-F5 from Finland with melas. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was poor growth, weight loss, exercise\-induced fatigue, exercise\-induced palpitation, ankle swelling, muscle atrophy, achilles tendon tightness, excessive fatigue.

# 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 | 3271 | m.3271T\>C | T3271C\-F5 | T3271C\-F5\-III2 | Uninf | F | N | N | D | 42 | / | / | / | / | Healthy |  |
| 2 | 3271 | m.3271T\>C | T3271C\-F5 | T3271C\-F5\-IV2 | Fam | F | N | N | A | ND | 5% | / | / | / | Healthy |  |
| 3 | 3271 | m.3271T\>C | T3271C\-F5 | T3271C\-F5\-V1 | Fam | F | Y | Y | D | 6 | / | 94% | / | 94% (F), 85% (Brain), 92% (Heart), 89% (Liver) | poor growth, weight loss, exercise\-induced fatigue, exercise\-induced palpitation, ankle swelling, muscle atrophy, Achilles tendon tightness, excessive fatigue, vomiting, metabolic acidosis, bilateral pleural effusions, pneumothorax, anuria, decreased gastric motility, elbow and ankle contractions, partial growth hormone deficiency, therapy\-resistant partial seizures, stroke\-like lesions, multiorgan failure |  |
| 4 | 3271 | m.3271T\>C | T3271C\-F5 | T3271C\-F5\-V2 | Fam | F | N | N | A | 18 | 27% | / | / | / | Healthy |  |
| 5 | 3271 | m.3271T\>C | T3271C\-F5 | T3271C\-F5\-V3 | Fam | F | N | N | A | ND | 4% | / | / | / | Healthy |  |

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