T7511C-F5

**Figure 1\. Pedigree diagram for family T7511C\-F5\.**

![](/media/202606/20260622191515448563.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7511 | m.7511T\>C | T7511C\-F5 | Japan | Hearing loss | 16 | 6 | 2007 | [18340555](https://pubmed.ncbi.nlm.nih.gov/18340555/) |  |

The **m.7511T\>C** variant in MT\-TS1 was reported in family T7511C\-F5 from Japan with hearing loss. The pedigree record reported 16 unaffected and 6 affected maternal relatives, and the carrier table includes 23 listed carriers. Homoplasmy was reported in 3/23 listed carriers; 7/23 carriers were affected, and the main clinical manifestation among affected carriers was 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 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 2 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II1 | Fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 3 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II2 | Fam | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 4 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II4 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 5 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II5 | Fam | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 6 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II6 | Fam | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 7 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II8 | Fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 8 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II9 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 9 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II10 | Fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 10 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II11 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 11 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II12 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 12 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II13 | Fam | F | N | Y | A | 62 | Homo | / | / | / | Hearing loss |  |
| 13 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II15 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 14 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 15 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 16 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III3 | Fam | F | N | Y | A | 43 | Homo | / | / | / | Hearing loss |  |
| 17 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III5 | Fam | F | Y | Y | A | 31 | Homo | / | / | / | Hearing loss |  |
| 18 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III7 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 19 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III9 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 20 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III10 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 21 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-IV1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 22 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-IV2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 23 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-IV3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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