T8356C-F2

**Figure 1\. Pedigree diagram for family T8356C\-F2\.**

![](/media/202607/T8356C-F2-pedigree_20260701024747226663.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 | 8356 | m.8356T\>C | T8356C\-F2 | Italy | MERRF/MELAS overlap syndrome | 4 | 6 | 1993 | [8069654](https://pubmed.ncbi.nlm.nih.gov/8069654/) | / |

The **m.8356T\>C** variant in MT\-TK was reported in family T8356C\-F2 from Italy with merrf/melas overlap syndrome. The pedigree record reported 4 unaffected and 6 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 0/11 listed carriers; 7/11 carriers were affected, and the main clinical manifestation among affected carriers was neural deafness, cataract, myoclonus, ataxia, dementia, stroke\-like episodes, massive cerebral stroke, myoclonus epilepsy.

# 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 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-I1 | Uninf | F | N | Y | A | 54 | / | 87\.5% | / | / | Neural deafness; cataract; myoclonus; ataxia; dementia | Original label I\-1; lymphocyte mutant mtDNA barely detectable |
| 2 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-II1 | Fam | M | N | N | A | 30 | / | / | / | / | Healthy | Original label II\-1 |
| 3 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-II2 | Fam | F | N | Y | D | 32 | / | / | / | / | Stroke\-like episodes; massive cerebral stroke; myoclonus epilepsy; neural deafness; severe ataxia; migrainous attacks; dementia | Original label II\-2 |
| 4 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-II3 | Fam | M | N | N | A | 27 | 0 | 0 | / | / | Healthy | Original label II\-3 |
| 5 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-II4 | Fam | F | N | Y | A | 23 | 0 | 45\.2% | / | / | Mild neural deafness | Original label II\-4 |
| 6 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-II5 | Fam | F | N | Y | A | 21 | / | / | / | / | Euthyroid goiter | Original label II\-5 |
| 7 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-II6 | Fam | M | N | N | A | 23 | 0 | 56\.7% | / | / | Healthy; EEG abnormalities | Original label II\-6 |
| 8 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-II7 | Fam | F | N | Y | A | 17 | 0 | 43\.4% | / | / | Deafness; euthyroid goiter | Original label II\-7 |
| 9 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-II8 | Fam | F | N | Y | A | 16 | / | 56\.7% | / | / | Migrainous attacks; myoclonus epilepsy; neural deafness; euthyroid goiter | Original label II\-8; lymphocyte mutant mtDNA barely detectable |
| 10 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-II9 | Fam | M | N | N | A | 9 | 0 | 47\.1% | / | / | Healthy; EEG abnormalities | Original label II\-9 |
| 11 | 8356 | m.8356T\>C | T8356C\-F2 | T8356C\-F2\-III1 | Fam | M | Y | Y | A | 11 | / | 84\.4% | / | / | Severe myoclonus epilepsy; cerebellar ataxia; mild neural deafness | Original label III\-1; lymphocyte mutant mtDNA barely detectable; elevated lactate/CK |

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