T7511C-F3

**Figure 1\. Pedigree diagram for family T7511C\-F3\.**

![](/media/202607/20260722000209285811.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\-F3 | French | Non syndromic sensorineural deafness | 10 | 8 | 2002 | [12461693](https://pubmed.ncbi.nlm.nih.gov/12461693/) |  |

The **m.7511T\>C** variant in MT\-TS1 was reported in family T7511C\-F3 from French with non syndromic sensorineural deafness. The pedigree record reported 10 unaffected and 8 affected maternal relatives, and the carrier table includes 19 listed carriers. Homoplasmy was reported in 8/19 listed carriers; 9/19 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\-F3 | T7511C\-F3\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 2 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-II2 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 3 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-III2 | Fam | F | N | Y | A | 64 | Homo | / | / | / | Hearing loss |  |
| 4 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-III3 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 5 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-III4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 6 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-III5 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 7 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV2 | Fam | F | N | Y | A | 39 | Homo | / | / | / | Hearing loss |  |
| 8 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV4 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 9 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV5 | Fam | M | N | Y | D | 32 | / | / | / | / | Hearing loss |  |
| 10 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV6 | Fam | F | N | N | A | 51 | Homo | / | / | / | Healthy |  |
| 11 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 12 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V1 | Fam | F | Y | Y | A | 24 | Homo | / | / | / | Hearing loss |  |
| 13 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V2 | Fam | F | N | N | A | 14 | Homo | / | / | / | Healthy |  |
| 14 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 15 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V6 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 16 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V7 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 17 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 18 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V9 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 19 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V10 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |

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