T4160C-F3

**Figure 1\. Pedigree diagram for family T4160C\-F3\.**

![](/media/202606/20260630035241977417.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4160 | m.4160T\>C | T4160C\-F3 | 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\. |

The **m.4160T\>C** variant in MT\-ND1 was reported in family T4160C\-F3 from Australia with lhon / infantile encephalopathy / neurologic abnormalities. The pedigree record reported 4 unaffected and 5 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in all listed carriers; 5/9 carriers were affected, and the main clinical manifestation among affected carriers was affected visually and, or neurologically, neurological abnormalities, normal vision, optic atrophy, no neurological changes, impaired vision.

# 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\-F3 | T4160C\-F3\-II1 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Affected visually and/or neurologically |  |
| 2 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-II2 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Neurological abnormalities; normal vision |  |
| 3 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III5 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Optic atrophy; no neurological changes |  |
| 4 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III7 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy |  |
| 5 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III13 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Carrying A4136G (Homo). |
| 6 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III14 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Impaired vision | Carrying A4136G (Homo). |
| 7 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-III15 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Impaired vision | Carrying A4136G (Homo). |
| 8 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-IV10 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Carrying A4136G (Homo). |
| 9 | 4160 | m.4160T\>C | T4160C\-F3 | T4160C\-F3\-IV11 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Carrying A4136G (Homo). |

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