T4327C

# **General Information**

| **Position** | **4327** | **Variant** | **m.4327T\>C** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 71\.00% | **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.4327T\>C** variant in MT\-TI has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 33%, with a median of 5% overall; affected carriers showed mutation loads from 0% to 33%, with a median of 5%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (33%). The main clinical manifestations among affected carriers included cerebellar ataxia, axonal sensory peripheral neuropathy, intracranial calcifications, and pyramidal syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4327 | m.4327T\>C | T4327C\-F1 | France | Cerebellar ataxia, pyramidal syndrome,axonal sensory peripheral neuropathy,intracranial calcifications | NA | NA | 2020 | [32419253](https://pubmed.ncbi.nlm.nih.gov/32419253/) |  |

# **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 | 4327 | m.4327T\>C | T4327C\-F1 | T4327C\-F1\-P1 | Uninf | F | Y | Y | A | 66 | 0 | 33% | 1% | 9%(BM) | Cerebellar ataxia, pyramidal syndrome,axonal sensory peripheral neuropathy,intracranial calcifications |  |

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