T4160C-F1

**Figure 1\. Pedigree diagram for family T4160C\-F1\.**

![](/media/202606/20260630035225668279.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\-F1 | China(Shandong) | LHON | 0 | 0 | 2022 | [35699829](https://pubmed.ncbi.nlm.nih.gov/35699829/) | carrying A4136G(100%) |

The **m.4160T\>C** variant in MT\-ND1 was reported in family T4160C\-F1 from China(Shandong) with lhon. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 1 listed carriers. Homoplasmy was reported in 0/1 listed carriers; 1/1 carriers were affected, and the main clinical manifestation among affected carriers was lhon.

# 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%) |

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