T8357C-F2

**Figure 1\. Pedigree diagram for family T8357C\-F2\.**

![](/media/202607/T8357C-F2-pedigree_20260701024819280776.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 | 8357 | m.8357T\>C | T8357C\-F2 | Italian | Multiorgan mitochondrial disease | 2 | 3 | 2025 | [40834966](https://pubmed.ncbi.nlm.nih.gov/40834966/) | / |

The **m.8357T\>C** variant in MT\-TK was reported in family T8357C\-F2 from Italian with multiorgan mitochondrial disease. The pedigree record reported 2 unaffected and 3 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 4/6 carriers were affected, and the main clinical manifestation among affected carriers was mild neurosensory hearing impairment, mild intellectual disability, clumsiness, exercise\-induced muscle fatigue, action tremor, anxiety, facial dysmorphisms, delayed speech and language.

# 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 | 8357 | m.8357T\>C | T8357C\-F2 | T8357C\-F2\-I1 | Uninf | F | N | N | A | 53 | 56% | / | 78% | / | Healthy; frequent labyrinthitis episodes | / |
| 2 | 8357 | m.8357T\>C | T8357C\-F2 | T8357C\-F2\-II1 | Fam | F | N | Y | A | 32 | 84% | / | 94% | 81% (F); 97% (F) | Mild neurosensory hearing impairment | / |
| 3 | 8357 | m.8357T\>C | T8357C\-F2 | T8357C\-F2\-II2 | Fam | F | N | Y | A | 24 | 96% | / | 99% | / | Mild intellectual disability; clumsiness; exercise\-induced muscle fatigue; action tremor; anxiety; mild neurosensory hearing impairment | / |
| 4 | 8357 | m.8357T\>C | T8357C\-F2 | T8357C\-F2\-II3 | Fam | M | N | N | A | ND | 36% | / | 40% | / | Healthy | / |
| 5 | 8357 | m.8357T\>C | T8357C\-F2 | T8357C\-F2\-III1 | Fam | M | Y | Y | A | 10 | 100% | 100% | 99% | 98% (F); 98% (F) | Facial dysmorphisms; mild intellectual disability; delayed speech and language; clumsiness; exercise\-induced muscle fatigue; abnormal EEG; progressive sensorineural hearing impairment; lactic acidosis; metabolic acidosis; hyperkalemia; hepatic steatosis; anemia; bone marrow hypocellularity; decreased mitochondrial complex I | / |
| 6 | 8357 | m.8357T\>C | T8357C\-F2 | T8357C\-F2\-III2 | Fam | F | N | Y | A | 7 | 100% | 100% | 99% | 99% (F); 98% (F) | Facial dysmorphisms; intrauterine growth restriction; oligohydramnios; failure to thrive; delayed speech and language; absence seizure with eyelid myoclonus; moderate sensorineural hearing impairment; lactic acidosis; metabolic acidosis; hyperkalemia; anemia; bone marrow hypocellularity; decreased mitochondrial complex I | / |

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