C12206T-F1

**Figure 1\. Pedigree diagram for family C12206T\-F1\.**

![](/media/202606/20260622141659480069.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12206 | m.12206C\>T | C12206T\-F1 | UK | MELAS\-like encephalopathy; bilateral optic atrophy | 2 | 1 | 2013 | [23696415](https://pubmed.ncbi.nlm.nih.gov/23696415/) |  |

The **m.12206C\>T** variant in MT\-TH was reported in family C12206T\-F1 from UK with melas\-like encephalopathy; bilateral optic atrophy. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was seizures, visual aura, disinhibited affect, cognitive impairment, right hemianopia, sensory impairment (left arm), finger dexterity loss, hyponatraemia.

# 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 | 12206 | m.12206C\>T | C12206T\-F1 | C12206T\-F1\-I2 | Uninf | F | N | N | A | ND | 0% | / | 12% | / | Healthy |  |
| 2 | 12206 | m.12206C\>T | C12206T\-F1 | C12206T\-F1\-II1 | Fam | M | Y | Y | A | 52 | 1% | 95% | 87% | 0% (F) | Seizures, visual aura, disinhibited affect, cognitive impairment, right hemianopia, sensory impairment (left arm), finger dexterity loss, hyponatraemia, delayed visual evoked responses, cerebral infarcts, progressive neurological decline |  |
| 3 | 12206 | m.12206C\>T | C12206T\-F1 | C12206T\-F1\-II2 | Fam | M | N | Y | A | 45 | 0% | / | 90% | / | Headache, seizures, right temporoparietal infarct, bilateral optic atrophy, long tract signs, refractory seizures, progressive cognitive decline |  |
| 4 | 12206 | m.12206C\>T | C12206T\-F1 | C12206T\-F1\-II3 | Fam | F | N | N | D | 41 | 1% | / | 1% | 1% (BM) | Healthy |  |

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