C7539T

# **General Information**

| **Position** | **7539** | **Variant** | **m.7539C\>T** | **Locus** | **MT\-TD** | **RNA** | **tRNA Asp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 93\.70% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.7539C\>T** variant in MT\-TD has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 8% to 85%, with a median of 15% overall; affected carriers showed mutation loads from 8% to 85%, with a median of 15%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (85%) and urine (27%) than in blood (8%). The main clinical manifestations among affected carriers included myopathy, cataract, cognitive impairment, dysarthria, dysphagia, muscle weakness, sensorineural hearing loss, and spinal ataxia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7539 | m.7539C\>T | [C7539T\-F1 ](https://mitofam.com/doc/569/)| Germany | Multisystemic mitochondrial disorder | ND | ND | 2015 | [25447692](https://pubmed.ncbi.nlm.nih.gov/25447692/) |  |

# **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 | 7539 | m.7539C\>T | C7539T\-F1 | C7539T\-F1\-II2 | Uninf | F | Y | Y | A | 51 | 8% | 85% | 27% | 15% (BM), 10% (H) | Myopathy/muscle weakness, spinal ataxia, sensorineural hearing loss, cataract, dysarthria, dysphagia, cognitive impairment |  |
| 2 | 7539 | m.7539C\>T | C7539T\-F1 | C7539T\-F1\-III1 | Fam | F | N | N | A | 21 | / | / | / | / | Healthy |  |

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