T14498C-F1

**Figure 1\. Pedigree diagram for family T14498C\-F1\.**

![](/media/202606/20260630180852002781.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14498 | m.14498T\>C | T14498C\-F1 | Germany | LHON | 1 | 3 | 1997 | [9177303](https://pubmed.ncbi.nlm.nih.gov/9177303/) |  |

The **m.14498T\>C** variant in MT\-ND6 was reported in family T14498C\-F1 from Germany with lhon. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 1/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was lhon, severe visual loss with minute visual acuity and very large central scotomas, onset age 46\.

# 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 | 14498 | m.14498T\>C | T14498C\-F1 | T14498C\-F1\-II2 | Fam | F | N | Y | ND | 46 | 50% | / | / | / | LHON; severe visual loss with minute visual acuity and very large central scotomas; onset age 46 | Original label LHON65II2 |
| 2 | 14498 | m.14498T\>C | T14498C\-F1 | T14498C\-F1\-II3 | Fam | F | N | N | ND | ND | 50% | / | / | / | Healthy | Original label LHON65II3 |
| 3 | 14498 | m.14498T\>C | T14498C\-F1 | T14498C\-F1\-IV1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | Original label LHON65IV1 |

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