T7510C-F2

**Figure 1\. Pedigree diagram for family T7510C\-F2\.**

![](/media/202606/20260622190901052622.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7510 | m.7510T\>C | T7510C\-F2 | Spain | Hearing loss | 4 | 21 | 2002 | [12471220](https://pubmed.ncbi.nlm.nih.gov/12471220/) |  |

The **m.7510T\>C** variant in MT\-TS1 was reported in family T7510C\-F2 from Spain with hearing loss. The pedigree record reported 4 unaffected and 21 affected maternal relatives, and the carrier table includes 26 listed carriers. Homoplasmy was reported in 25/26 listed carriers; 22/26 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 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 2 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III5 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 3 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III7 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 4 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III8 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 5 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III9 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 6 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III11 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 7 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III15 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 8 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-III17 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 9 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV1 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 10 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV2 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 11 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV3 | Fam | F | Y | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 12 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV4 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 13 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV5 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 14 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV7 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 15 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV9 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 16 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV11 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 17 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV12 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 18 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV16 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 19 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV18 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 20 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV19 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 21 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-IV20 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 22 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V1 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 23 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing loss |  |
| 24 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V3 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 25 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 26 | 7510 | m.7510T\>C | T7510C\-F2 | T7510C\-F2\-V5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |

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