C14568T-F2

**Figure 1\. Pedigree diagram for family C14568T\-F2\.**

![](/media/202606/20260630174620933109.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14568 | m.14568C\>T | C14568T\-F2 | Germany | LHON | 4 | 0 | 1999 | [10447650](https://pubmed.ncbi.nlm.nih.gov/10447650/) |  |

The **m.14568C\>T** variant in MT\-ND6 was reported in family C14568T\-F2 from Germany with lhon. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was typical lhon with bilateral visual loss, scotomas, temporal optic atrophy.

# 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 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-III1 | Fam | M | Y | Y | A | 16 | Homo | / | / | / | Typical LHON with bilateral visual loss, scotomas, temporal optic atrophy |  |
| 2 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-II3 | Fam | F | N | N | A | 43 | Homo | / | / | / | Healthy |  |
| 3 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-III2 | Fam | M | N | N | A | 14 | Homo | / | / | / | Healthy |  |
| 4 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-II1 | Fam | F | N | N | A | 41 | Homo | / | / | / | Healthy |  |
| 5 | 14568 | m.14568C\>T | C14568T\-F2 | C14568T\-F2\-II2 | Fam | M | N | N | A | 48 | Homo | / | / | / | Healthy |  |

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