C12258A-F1

**Figure 1\. Pedigree diagram for family C12258A\-F1\.**

![](/media/202606/20260622173448877930.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\-F1 | UK | Diabetes mellitus | ND | ND | 1998 | [9792552](https://pubmed.ncbi.nlm.nih.gov/9792552/) |  |

The **m.12258C\>A** variant in MT\-TS2 was reported in family C12258A\-F1 from UK with diabetes mellitus. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was diabetes, cataracts, deafness, cerebellar ataxia.

# 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\-F1 | C12258A\-F1\-I2 | Uninf | F | Y | Y | A | 61 | 19\.4% | 68\.4% | / | / | Diabetes, cataracts, deafness, cerebellar ataxia |  |
| 2 | 12258 | m.12258C\>A | C12258A\-F1 | C12258A\-F1\-II1 | Fam | F | N | Y | A | 20 | 45% | 85% | / | / | Diabetes, cataracts, deafness |  |

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