C14482G-F1

**Figure 1\. Pedigree diagram for family C14482G\-F1\.**

![](/media/202606/20260630174523502337.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\>G | C14482G\-F1 | Turkey | LHON | 1 | 0 | 1998 | [9443868](https://pubmed.ncbi.nlm.nih.gov/9443868/) |  |

The **m.14482C\>G** variant in MT\-ND6 was reported in family C14482G\-F1 from Turkey with lhon. The pedigree record reported 1 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 lhon, bilateral optic atrophy, onset at 18, centrocecal scotomata, temporal optic disc pallor.

# 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\>G | C14482G\-F1 | C14482G\-F1\-VIII20 | Fam | M | Y | Y | A | 18 | / | / | / | Homo (ND) | LHON; bilateral optic atrophy; onset at 18; centrocecal scotomata; temporal optic disc pallor | Original label VIII\-20 |
| 2 | 14482 | m.14482C\>G | C14482G\-F1 | C14482G\-F1\-VIII21 | Fam | F | N | N | A | ND | / | / | / | Homo (ND) | Healthy | Original label VIII\-21 |

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