T4268C-F1

**Figure 1\. Pedigree diagram for family T4268C\-F1\.**

![](/media/202607/T4268C-F1-pedigree_20260701023342470934.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4268 | m.4268T\>C | T4268C\-F1 | China | Hearing loss | 4 | 1 | 2022 | [35071519](https://pubmed.ncbi.nlm.nih.gov/35071519/) |  |

The **m.4268T\>C** variant in MT\-TI was reported in family T4268C\-F1 from China with hearing loss. The pedigree record reported 4 unaffected and 1 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in all listed carriers; 2/6 carriers were affected, and the main clinical manifestation among affected carriers was hearing loss, moderate\-severe 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 | 4268 | m.4268T\>C | T4268C\-F1 | T4268C\-F1\-I2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 4268 | m.4268T\>C | T4268C\-F1 | T4268C\-F1\-II1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 4268 | m.4268T\>C | T4268C\-F1 | T4268C\-F1\-II4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 4 | 4268 | m.4268T\>C | T4268C\-F1 | T4268C\-F1\-II5 | Fam | M | N | Y | A | 48 | Homo | / | / | / | Hearing loss |  |
| 5 | 4268 | m.4268T\>C | T4268C\-F1 | T4268C\-F1\-III3 | Fam | M | Y | Y | A | 28 | Homo | / | / | / | Moderate\-severe hearing loss |  |
| 6 | 4268 | m.4268T\>C | T4268C\-F1 | T4268C\-F1\-III4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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