T14502C-F6

**Figure 1\. Pedigree diagram for family T14502C\-F6\.**

![](/media/202606/20260630180920864575.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\-F6 | China | LHON | 6 | 7 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) |  |

The **m.14502T\>C** variant in MT\-ND6 was reported in family T14502C\-F6 from China with lhon. The pedigree record reported 6 unaffected and 7 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in all listed carriers; 8/8 carriers were affected, and the main clinical manifestation among affected carriers was lhon, severe visual impairment, profound visual impairment, onset 24 y, bilateral visual acuity 0\.04, moderate visual impairment.

# 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\-F6 | T14502C\-F6\-I2 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ404\-I\-2 |
| 2 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-II5 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ404\-II\-5 |
| 3 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-II7 | Fam | F | Y | Y | A | 38 | Homo | / | / | / | LHON; severe visual impairment; onset 24 y; bilateral visual acuity 0\.04 | Original label WZ404\-II\-7; carrying G11778A (Homo/near\-Homo) |
| 4 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-II10 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ404\-II\-10 |
| 5 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-III1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ404\-III\-1 |
| 6 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-III2 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ404\-III\-2 |
| 7 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-III5 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ404\-III\-5 |
| 8 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-III6 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ404\-III\-6 |

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