T3394C-F9

**Figure 1\. Pedigree diagram for family T3394C\-F9\.**

![](/media/202606/20260630034714950638.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3394 | m.3394T\>C | T3394C\-F9 | China | LHON | 7 | 5 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | pedigree WZ337; haplogroup M9a; Carrying G11778A |

The **m.3394T\>C** variant in MT\-ND1 was reported in family T3394C\-F9 from China with lhon. The pedigree record reported 7 unaffected and 5 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 | 3394 | m.3394T\>C | T3394C\-F9 | T3394C\-F9\-III7 | Fam | M | Y | Y | A | 29 | / | / | / | Homo (Lymphoblastoid cells/cybrids) | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ337 |

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