C12258A-F2

**Figure 1\. Pedigree diagram for family C12258A\-F2\.**

![](/media/202606/20260622173505678121.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12258 | m.12258C\>A | C12258A\-F2 | Ireland | Retinitis pigmentosa, progressive sensorineural hearing loss | 8 | 23 | 1999 | [10090882](https://pubmed.ncbi.nlm.nih.gov/10090882/) |  |

The **m.12258C\>A** variant in MT\-TS2 was reported in family C12258A\-F2 from Ireland with retinitis pigmentosa, progressive sensorineural hearing loss. The pedigree record reported 8 unaffected and 23 affected maternal relatives, and the carrier table includes 31 listed carriers. Homoplasmy was reported in 0/30 listed carriers; 22/30 carriers were affected, and the main clinical manifestation among affected carriers was retinitis pigmentosa, progressive sensorineural hearing loss.

# 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 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 2 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-II2 | Fam | F | N | Y | D | ND | / | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 3 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-III11 | Fam | M | N | Y | A | ND | 5% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 4 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-III13 | Fam | F | N | Y | D | ND | / | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 5 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV33 | Fam | F | N | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 6 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV34 | Fam | M | N | Y | A | ND | 30% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 7 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV35 | Fam | F | N | Y | A | ND | 40% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 8 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV37 | Fam | F | N | N | A | ND | 60% | / | / | / | Healthy |  |
| 9 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV39 | Fam | M | N | N | A | ND | 40% | / | / | / | Healthy |  |
| 10 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV44 | Fam | F | N | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 11 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV47 | Fam | F | N | Y | A | ND | 30% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 12 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV48 | Fam | F | N | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 13 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV52 | Fam | F | N | Y | A | ND | 10% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 14 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV54 | Fam | F | N | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 15 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV58 | Fam | F | N | Y | A | ND | 40% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 16 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV60 | Fam | M | N | Y | A | ND | 20% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 17 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-IV61 | Fam | M | N | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 18 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V1 | Fam | F | N | N | A | ND | 80% | / | / | / | Healthy |  |
| 19 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V6 | Fam | F | N | Y | A | ND | 95% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 20 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V7 | Fam | F | N | N | A | ND | 40% | / | / | / | Healthy |  |
| 21 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V16 | Fam | F | N | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 22 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V17 | Fam | M | N | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 23 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V18 | Fam | F | N | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 24 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V25 | Fam | F | N | Y | A | ND | 50% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 25 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V26 | Fam | F | N | N | A | ND | 40% | / | / | / | Healthy |  |
| 26 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V28 | Fam | F | N | N | A | ND | 40% | / | / | / | Healthy |  |
| 27 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V14 | Fam | M | N | Y | A | ND | 60% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 28 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V22 | Fam | M | N | N | A | ND | 20% | / | / | / | Healthy |  |
| 29 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V23 | Fam | F | N | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |
| 30 | 12258 | m.12258C\>A | C12258A\-F2 | C12258A\-F2\-V5 | Fam | F | N | Y | A | ND | 80% | / | / | / | Retinitis pigmentosa, progressive sensorineural hearing loss |  |

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