T7510C-F5

**Figure 1\. Pedigree diagram for family T7510C\-F5\.**

![](/media/202606/20260622191221132052.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\-F5 | Finland | Hearing loss, complex neurologic phenotype | 2 | 3 | 2017 | [29299381](https://pubmed.ncbi.nlm.nih.gov/29299381/) |  |

The **m.7510T\>C** variant in MT\-TS1 was reported in family T7510C\-F5 from Finland with hearing loss, complex neurologic phenotype. The pedigree record reported 2 unaffected and 3 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 4/6 carriers were affected, and the main clinical manifestation among affected carriers was postural hand tremor, restless legs syndrome, ataxia, hearing loss, mild ataxia, sensorineural hearing impairment, mild motor skill delay, light\-sensitive generalized epilepsy with absence seizures.

# 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\-F5 | T7510C\-F5\-I2 | Uninf | F | N | Y | A | 70 | 90% | / | / | / | Postural hand tremor, restless legs syndrome, ataxia, hearing loss |  |
| 2 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-II2 | Fam | F | N | Y | A | \<10 | ≥99% | / | / | ≥99% | Hearing loss, mild ataxia |  |
| 3 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-II3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-II4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 5 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-III1 | Fam | M | N | Y | A | 20 | ≥99% | / | / | / | Hearing loss |  |
| 6 | 7510 | m.7510T\>C | T7510C\-F5 | T7510C\-F5\-III2 | Fam | F | Y | Y | A | 6 | ≥99% | ≥99% | / | / | Sensorineural hearing impairment, mild motor skill delay, light\-sensitive generalized epilepsy with absence seizures, motor clumsiness, diminished deep tendon reflexes, cognitive delay progressing to intellectual disability, short stature, mildly ataxic gait, hand clumsiness, flexor plantar responses. |  |

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