C12224T-F1

**Figure 1\. Pedigree diagram for family C12224T\-F1\.**

![](/media/202606/20260622173342328544.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12224 | m.12224C\>T | C12224T\-F1 | China | Deafness | 7 | 7 | 2010 | [19818876](https://pubmed.ncbi.nlm.nih.gov/19818876/) | Carrying A1555G |

The **m.12224C\>T** variant in MT\-TS2 was reported in family C12224T\-F1 from China with deafness. The pedigree record reported 7 unaffected and 7 affected maternal relatives, and the carrier table includes 15 listed carriers. Homoplasmy was reported in all listed carriers; 8/15 carriers were affected, and the main clinical manifestation among affected carriers was deafness.

# 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 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1555G |
| 2 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1556G |
| 3 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1557G |
| 4 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II5 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1558G |
| 5 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1559G |
| 6 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II9 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1560G |
| 7 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1561G |
| 8 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1562G |
| 9 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1563G |
| 10 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1564G |
| 11 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III5 | Fam | M | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1565G |
| 12 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1566G |
| 13 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III7 | Fam | M | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1567G |
| 14 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III8 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1568G |
| 15 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III9 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1569G |

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