G10680A-F5

**Figure 1\. Pedigree diagram for family G10680A\-F5\.**

![](/media/202607/G10680A-F5-pedigree_20260701012545504665.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10680 | m.10680G\>A | G10680A\-F5 | Italy | LHON | 1 | 0 | 2018 | [29444077](https://pubmed.ncbi.nlm.nih.gov/29444077/) | Carrying A12033G, G14258A |

The **m.10680G\>A** variant in MT\-ND4L was reported in family G10680A\-F5 from Italy with lhon. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 2/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was lhon.

# 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 | 10680 | m.10680G\>A | G10680A\-F5 | G10680A\-F5\-III2 | Uninf | F | N | N | A | ND | / | / | / | Homo (Other tissues) | Healthy |  |
| 2 | 10680 | m.10680G\>A | G10680A\-F5 | G10680A\-F5\-IV1 | Fam | M | Y | Y | A | ND | / | Homo | / | / | LHON | Carrying A12033G, G14258A |

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