G11778A-F587

**Figure 1\. Pedigree diagram for family G11778A\-F587\.**

![](/media/202606/20260630172331378369.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\-F587 | Australia | LHON; Harding disease / MS\-like illness in proband | 5 | 1 | 2019 | [30936345](https://pubmed.ncbi.nlm.nih.gov/30936345/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F587 from Australia with lhon; harding disease / ms\-like illness in proband. The pedigree record reported 5 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was harding disease, lhon\-ms overlap, left eye visual loss in 20s, second eye at 39, optic atrophy and ms\-like neurological episode, classical lhon, severe bilateral sequential visual loss, diagnosed at age 37\.

# 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\-F587 | G11778A\-F587\-II1 | Fam | F | Y | Y | A | 61 | / | / | / | Positive(ND) | Harding disease / LHON\-MS overlap; left eye visual loss in 20s, second eye at 39, optic atrophy and MS\-like neurological episode |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F587 | G11778A\-F587\-II2 | Fam | M | N | Y | A | 37 | / | / | / | Homo(ND) | Classical LHON; severe bilateral sequential visual loss; diagnosed at age 37 |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F587 | G11778A\-F587\-III1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F587 | G11778A\-F587\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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