G11778A-F216

**Figure 1\. Pedigree diagram for family G11778A\-F216\.**

![](/media/202606/20260630164144427604.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\-F216 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family N |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F216 from Thailand with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 8/8 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual loss, onset age 20, onset age 10, onset age 45, onset age 30, onset age 19, onset age 40\.

# 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\-F216 | G11778A\-F216\-II1 | Fam | M | Y | Y | A | 20 | / | / | / | / | LHON; visual loss; onset age 20 | Original ID: Patient 18 |
| 2 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II2 | Fam | F | N | Y | A | 20 | / | / | / | / | LHON; visual loss; onset age 20 | Original ID: Patient 19 |
| 3 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II3 | Fam | F | N | Y | A | 10 | / | / | / | / | LHON; visual loss; onset age 10 | Original ID: Patient 20 |
| 4 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II4 | Fam | F | N | Y | A | 45 | / | / | / | / | LHON; visual loss; onset age 45 | Original ID: Patient 21 |
| 5 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II5 | Fam | F | N | Y | A | 30 | / | / | / | / | LHON; visual loss; onset age 30 | Original ID: Patient 22 |
| 6 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II6 | Fam | M | N | Y | A | 19 | / | / | / | / | LHON; visual loss; onset age 19 | Original ID: Patient 23 |
| 7 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II7 | Fam | M | N | Y | A | 30 | / | / | / | / | LHON; visual loss; onset age 30 | Original ID: Patient 24 |
| 8 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II8 | Fam | F | N | Y | A | 40 | / | / | / | / | LHON; visual loss; onset age 40 | Original ID: Patient 25 |

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