T14484C-F148

**Figure 1\. Pedigree diagram for family T14484C\-F148\.**

![](/media/202606/20260630180744617067.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\-F148 | Thailand | LHON | 7 | 0 | 2022 | [36051150](https://pubmed.ncbi.nlm.nih.gov/36051150/) |  |

The **m.14484T\>C** variant in MT\-ND6 was reported in family T14484C\-F148 from Thailand with lhon. The pedigree record reported 7 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was bilateral acute painless visual loss, abnormal color vision, pale optic discs.

# 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\-F148 | T14484C\-F148\-III1 | Fam | M | Y | Y | A | 33 | 100% | / | / | / | Bilateral acute painless visual loss; abnormal color vision; pale optic discs | Original label A |
| 2 | 14484 | m.14484T\>C | T14484C\-F148 | T14484C\-F148\-III2 | Fam | M | N | N | A | 33 | 100% | / | / | / | Healthy | Original label B |

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