T14502C-F7

**Figure 1\. Pedigree diagram for family T14502C\-F7\.**

![](/media/202606/20260630180926377163.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\-F7 | China | LHON | 22 | 11 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) |  |

The **m.14502T\>C** variant in MT\-ND6 was reported in family T14502C\-F7 from China with lhon. The pedigree record reported 22 unaffected and 11 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in all listed carriers; 12/12 carriers were affected, and the main clinical manifestation among affected carriers was lhon, profound visual impairment, severe visual impairment, moderate visual impairment, onset 24 y, right visual acuity 0\.01 and left 0\.3\.

# 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\-F7 | T14502C\-F7\-II4 | Fam | F | N | Y | D | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-II\-4 |
| 2 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-II9 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-II\-9 |
| 3 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-II11 | Fam | F | N | Y | D | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ405\-II\-11 |
| 4 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III7 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ405\-III\-7 |
| 5 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III8 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-III\-8 |
| 6 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III11 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-III\-11 |
| 7 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III12 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ405\-III\-12 |
| 8 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III17 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ405\-III\-17 |
| 9 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III23 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-III\-23 |
| 10 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-IV1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ405\-IV\-1 |
| 11 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-IV2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ405\-IV\-2 |
| 12 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-IV9 | Fam | M | Y | Y | A | 24 | Homo | / | / | / | LHON; severe visual impairment; onset 24 y; right visual acuity 0\.01 and left 0\.3 | Original label WZ405\-IV\-9; carrying G11778A (Homo/near\-Homo) |

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