T7560C

# **General Information**

| **Position** | **7560** | **Variant** | **m.7560T\>C** | **Locus** | **MT\-TD** | **RNA** | **tRNA Asp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 46\.90% | **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.7560T\>C** variant in MT\-TD has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 76\.5% to 93\.3%, with a median of 84\.9% overall; affected carriers showed mutation loads from 76\.5% to 93\.3%, with a median of 84\.9%. The main clinical manifestations among affected carriers included FSGS, steroid\-resistant nephrotic syndrome, abdominal pain, acute pancreatitis, aminoaciduria, cortical blindness, edema, fatigability, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7560 | m.7560T\>C | T7560C\-F1 | China | Focal segmental glomerulosclerosis (FSGS) with cortical blindness \+ pancreatitis | ND | ND | 2024 | [39056263](https://pubmed.ncbi.nlm.nih.gov/39056263/) |  |

# **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 | 7560 | m.7560T\>C | T7560C\-F1 | T7560C\-F1\-II2 | De novo | M | Y | Y | D | 5\.25 | 76\.53% | / | 93\.34% | / | Steroid\-resistant nephrotic syndrome/FSGS, proteinuria, poor motor coordination, fatigability, cortical blindness, growth retardation, edema, lactic acidemia, aminoaciduria, abdominal pain, vomiting, acute pancreatitis, peritonitis, focal spasms |  |

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