T4160C

# General Information

| **Position** | **4160** | **Variant** | **m.4160T\>C** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **L285P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Reported \- possibly synergistic |

"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.4160T\>C** variant in MT\-ND1 has been reported in 3 pedigrees. To date, 11 carriers have been reported. Homoplasmy was reported in 10/11 carriers (90\.9%), and 7/11 carriers (63\.6%) were affected. The main clinical manifestations among affected carriers included impaired vision, affected visually and, LHON, longitudinally extensive transverse myelitis and LHON\-like optic neuropathy, neurological abnormalities, optic atrophy, no neurological changes, normal vision, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4160 | m.4160T\>C | [T4160C\-F1](https://mitofam.com/doc/1491/) | China(Shandong) | LHON | 0 | 0 | 2022 | [35699829](https://pubmed.ncbi.nlm.nih.gov/35699829/) | carrying A4136G(100%) |
| 2 | 4160 | m.4160T\>C | T4160C\-F2 | Australia | LHON / Leigh\-like encephalomyopathy | 0 | 0 | 2018 | [29249004](https://pubmed.ncbi.nlm.nih.gov/29249004/) |  |
| 3 | 4160 | m.4160T\>C | [T4160C\-F3](https://mitofam.com/doc/1492/) | Australia | LHON / infantile encephalopathy / neurologic abnormalities | 4 | 5 | 1991 | [2018041](https://pubmed.ncbi.nlm.nih.gov/2018041/) | A4136G observed in V\-16, V\-17, V\-18, VI\-15 and VI\-16\. |

# 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 | 4160 | m.4160T\>C | T4160C\-F1 | T4160C\-F1\-II2 | De novo | M | Y | Y | A | 19 | 80\.2% | / | 90\.8% | 81\.7% (BM) | LHON | carrying A4136G(100%) |
| 2 | 4160 | m.4160T\>C | T4160C\-F2 | T4160C\-F2\-I1 | Uninf | M | Y | Y | A | 8 | Homo | / | / | / | Longitudinally extensive transverse myelitis and LHON\-like optic neuropathy | Carrying m.14484T\>C (Homo). Tissue inferred from diagnostic DNA sample. |
| 3 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-II1 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Affected visually and/or neurologically |  |
| 4 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-II2 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Neurological abnormalities; normal vision |  |
| 5 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III5 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Optic atrophy; no neurological changes |  |
| 6 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III7 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy |  |
| 7 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III13 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Carrying A4136G (Homo). |
| 8 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III14 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Impaired vision | Carrying A4136G (Homo). |
| 9 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III15 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Impaired vision | Carrying A4136G (Homo). |
| 10 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-IV10 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Carrying A4136G (Homo). |
| 11 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-IV11 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Carrying A4136G (Homo). |

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