G11778A-F546

**Figure 1\. Pedigree diagram for family G11778A\-F546\.**

![](/media/202606/20260630171955851926.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11778 | m.11778G\>A | G11778A\-F546 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | Coexisting variant: T14484C |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F546 from India with lhon. The pedigree record reported ND unaffected and ND 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.

# 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 | 11778 | m.11778G\>A | G11778A\-F546 | G11778A\-F546\-II1 | Fam | M | Y | Y | A | 11 | / | / | / | Homo(ND) | LHON | Original carrier identifier: Patient 1 |
| 2 | 11778 | m.11778G\>A | G11778A\-F546 | G11778A\-F546\-I1 | Uninf | F | N | ND | A | ND | / | / | / | Heteroplasmic(ND) | ND |  |

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