T12261C-F1

**Figure 1\. Pedigree diagram for family T12261C\-F1\.**

![](/media/202606/20260622173842258789.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12261 | m.12261T\>C | T12261C\-F1 | UK | Deafness, epilepsy, intellectual disability | 1 | 1 | 2012 | [22378285](https://pubmed.ncbi.nlm.nih.gov/22378285/) |  |

The **m.12261T\>C** variant in MT\-TS2 was reported in family T12261C\-F1 from UK with deafness, epilepsy, intellectual disability. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was pectus excavatum, progressive exercise intolerance, migraine, night\-blindness with pigmentary retinopathy, deafness, epilepsy, intellectual disability.

# 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 | 12261 | m.12261T\>C | T12261C\-F1 | T12261C\-F1\-I2 | Uninf | F | N | N | A | ND | \<3% | / | \<3% | \<3% (BM) | Healthy |  |
| 2 | 12261 | m.12261T\>C | T12261C\-F1 | T12261C\-F1\-II2 | Fam | F | N | Y | A | ND | \<3% | / | \<3% | \<3% (BM) | Pectus excavatum, progressive exercise intolerance, migraine, night\-blindness with pigmentary retinopathy |  |
| 3 | 12261 | m.12261T\>C | T12261C\-F1 | T12261C\-F1\-III1 | Fam | M | Y | Y | A | 5 | 13% | 94% | 78% | 15% (BM) | Deafness, epilepsy, intellectual disability |  |

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