T14484C-F68

**Figure 1\. Pedigree diagram for family T14484C\-F68\.**

![](/media/202606/20260630180316567051.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14484 | m.14484T\>C | T14484C\-F68 | China | Leber hereditary optic neuropathy | 0 | 8 | 2008 | [18440284](https://pubmed.ncbi.nlm.nih.gov/18440284/) |  |

The **m.14484T\>C** variant in MT\-ND6 was reported in family T14484C\-F68 from China with leber hereditary optic neuropathy. The pedigree record reported 0 unaffected and 8 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in all listed carriers; 9/9 carriers were affected, and the main clinical manifestation among affected carriers was lhon visual impairment, onset 18, va od 0\.04 os 0\.06, onset 17, va od 0\.04 os 0\.04, onset 16, va od 0\.08 os 0\.06, va od 0\.12 os 0\.12\.

# 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 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-II1 | Fam | ND | N | Y | ND | 62 | Homo | / | / | / | LHON visual impairment; onset 18; VA OD 0\.04 OS 0\.06 | Original label II\-1 |
| 2 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-II2 | Fam | ND | N | Y | ND | 58 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.04 OS 0\.04 | Original label II\-2 |
| 3 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-II3 | Fam | ND | N | Y | ND | 56 | Homo | / | / | / | LHON visual impairment; onset 16; VA OD 0\.08 OS 0\.06 | Original label II\-3 |
| 4 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III2 | Fam | ND | N | Y | ND | 39 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.12 OS 0\.12 | Original label III\-2 |
| 5 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III3 | Fam | ND | N | Y | ND | 37 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.1 OS 0\.12 | Original label III\-3 |
| 6 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III4 | Fam | ND | N | Y | ND | 35 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.1 OS 0\.1 | Original label III\-4 |
| 7 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III5 | Fam | ND | N | Y | ND | 32 | Homo | / | / | / | LHON visual impairment; onset 16; VA OD 0\.08 OS 0\.08 | Original label III\-5 |
| 8 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III6 | Fam | M | Y | Y | ND | 30 | Homo | / | / | / | LHON visual impairment; onset 18; VA OD 0\.1 OS 0\.1 | Original label III\-6 |
| 9 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-IV2 | Fam | ND | N | Y | ND | 21 | Homo | / | / | / | LHON visual impairment; onset 18; VA OD 0\.12 OS 0\.15 | Original label IV\-2 |

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