T7511C-F1

**Figure 1\. Pedigree diagram for family T7511C\-F1\.**

![](/media/202606/20260622191347490358.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\-F1 | USA | Hearing loss | 7 | 35 | 1999 | [10371545](https://pubmed.ncbi.nlm.nih.gov/10371545/) |  |

The **m.7511T\>C** variant in MT\-TS1 was reported in family T7511C\-F1 from USA with hearing loss. The pedigree record reported 7 unaffected and 35 affected maternal relatives, and the carrier table includes 43 listed carriers. Homoplasmy was reported in 0/43 listed carriers; 36/43 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\-F1 | T7511C\-F1\-I1 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 2 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 3 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II2 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 4 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II4 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 5 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II6 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 6 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II9 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 7 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II11 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 8 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II13 | Fam | F | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 9 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II16 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 10 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III5 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 11 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III7 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 12 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III9 | Fam | M | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 13 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III11 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 14 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III16 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 15 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III17 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 16 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III19 | Fam | F | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 17 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III21 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss |  |
| 18 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III22 | Fam | M | N | Y | A | ND | 92% | / | / | / | Hearing loss |  |
| 19 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III24 | Fam | F | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 20 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III27 | Fam | F | Y | Y | A | 35 | 100% | / | / | / | Hearing loss |  |
| 21 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III29 | Fam | F | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 22 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III31 | Fam | F | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 23 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III33 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 24 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III36 | Fam | M | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 25 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 26 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV9 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 27 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV10 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 28 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV22 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 29 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV23 | Fam | M | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 30 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV24 | Fam | F | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 31 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV29 | Fam | M | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 32 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV30 | Fam | M | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 33 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV31 | Fam | M | N | N | A | ND | 100% | / | / | / | Healthy |  |
| 34 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV32 | Fam | M | N | N | A | ND | 100% | / | / | / | Healthy |  |
| 35 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV33 | Fam | M | N | N | A | ND | 100% | / | / | / | Healthy |  |
| 36 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV34 | Fam | M | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 37 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV35 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 38 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV36 | Fam | F | N | Y | A | ND | 90% | / | / | / | Hearing loss |  |
| 39 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV37 | Fam | M | N | Y | A | ND | 100% | / | / | / | Hearing loss |  |
| 40 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV38 | Fam | F | N | N | A | ND | 100% | / | / | / | Healthy |  |
| 41 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV39 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 42 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV40 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 43 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV41 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |

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