T4268C

# General Information

| **Position** | **4268** | **Variant** | **m.4268T\>C** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 65\.90% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# Pedigree Information

The **m.4268T\>C** variant in MT\-TI has been reported in 2 pedigrees. To date, 7 carriers have been reported. Homoplasmy was reported in 7/7 carriers (100%), and 3/7 carriers (42\.9%) were affected. The main clinical manifestations among affected carriers included deafness, hearing loss, and moderate\-severe hearing loss.

| **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](https://mitofam.com/doc/638/) | China | Hearing loss | 4 | 1 | 2022 | [35071519](https://pubmed.ncbi.nlm.nih.gov/35071519/) |  |
| 2 | 4268 | m.4268T\>C | T4268C\-F2 | China | Hearing loss | NA | NA | 2022 | [35071519](https://pubmed.ncbi.nlm.nih.gov/35071519/) |  |

# 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 |  |
| 7 | 4268 | m.4268T\>C | T4268C\-F2 | T4268C\-F2\-III3 | Uninf | M | Y | Y | A | 22 | Homo | / | / | / | Deafness |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).