C12264T-F2

**Figure 1\. Pedigree diagram for family C12264T\-F2\.**

![](/media/202606/20260622173627544968.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12264 | m.12264C\>T | C12264T\-F2 | UK | Myopathy, deafness, developmental delay and epilepsy | 1 | 0 | 2012 | [22378285](https://pubmed.ncbi.nlm.nih.gov/22378285/) |  |

The **m.12264C\>T** variant in MT\-TS2 was reported in family C12264T\-F2 from UK with myopathy, deafness, developmental delay and epilepsy. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was myopathy, deafness, developmental delay and 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 | 12264 | m.12264C\>T | C12264T\-F2 | C12264T\-F2\-I2 | Uninf | F | N | N | A | ND | 9% | 36% | 31% | 11% (F) | Healthy |  |
| 2 | 12264 | m.12264C\>T | C12264T\-F2 | C12264T\-F2\-II1 | Fam | F | Y | Y | A | 13 | 95% | 99% | 97% | 93% (F) | Myopathy, deafness, developmental delay and epilepsy |  |

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