C14482A-F5

**Figure 1\. Pedigree diagram for family C14482A\-F5\.**

![](/media/202606/20260630174414523479.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14482 | m.14482C\>A | C14482A\-F5 | Italy | LHON | 2 | 1 | 2002 | [12112086](https://pubmed.ncbi.nlm.nih.gov/12112086/) |  |

The **m.14482C\>A** variant in MT\-ND6 was reported in family C14482A\-F5 from Italy with lhon. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 3/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon, sudden visual loss at age 10, brisk reflexes, rapid bilateral visual loss, visual recovery.

# 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 | 14482 | m.14482C\>A | C14482A\-F5 | C14482A\-F5\-I1 | Fam | F | N | N | A | ND | 55% | / | / | / | Healthy | Original label I\-1 |
| 2 | 14482 | m.14482C\>A | C14482A\-F5 | C14482A\-F5\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original label II\-1 |
| 3 | 14482 | m.14482C\>A | C14482A\-F5 | C14482A\-F5\-II2 | Fam | M | N | Y | A | 28 | Homo | / | / | / | LHON; sudden visual loss at age 10; brisk reflexes | Original label II\-2 |
| 4 | 14482 | m.14482C\>A | C14482A\-F5 | C14482A\-F5\-III1 | Fam | M | Y | Y | A | 13 | Homo | / | / | / | LHON; rapid bilateral visual loss; visual recovery; brisk reflexes | Original label III\-1 |

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