T14502C-F9

**Figure 1\. Pedigree diagram for family T14502C\-F9\.**

![](/media/202606/20260630180935391024.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14502 | m.14502T\>C | T14502C\-F9 | China | LHON | 13 | 6 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) |  |

The **m.14502T\>C** variant in MT\-ND6 was reported in family T14502C\-F9 from China with lhon. The pedigree record reported 13 unaffected and 6 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in all listed carriers; 7/7 carriers were affected, and the main clinical manifestation among affected carriers was lhon, severe visual impairment, profound visual impairment, moderate visual impairment, onset 18 y, visual acuity 0\.08 right and 0\.1 left.

# 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 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-II2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ407\-II\-2 |
| 2 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-II3 | Fam | M | N | Y | ND | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ407\-II\-3 |
| 3 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ407\-III\-2 |
| 4 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III4 | Fam | F | N | Y | ND | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ407\-III\-4 |
| 5 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III5 | Fam | M | N | Y | ND | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ407\-III\-5 |
| 6 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III10 | Fam | M | Y | Y | A | 19 | Homo | / | / | / | LHON; moderate visual impairment; onset 18 y; visual acuity 0\.08 right and 0\.1 left | Original label WZ407\-III\-10; carrying G11778A (Homo/near\-Homo) |
| 7 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III14 | Fam | M | N | Y | ND | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ407\-III\-14 |

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