G11778A-F221

**Figure 1\. Pedigree diagram for family G11778A\-F221\.**

![](/media/202606/20260630164237793336.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\-F221 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family S |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F221 from Thailand with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual loss, onset age 16, onset age 7, onset age 8, onset age 33\.

# 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\-F221 | G11778A\-F221\-II1 | Fam | M | Y | Y | A | 16 | / | / | / | / | LHON; visual loss; onset age 16 | Original ID: Patient 33 |
| 2 | 11778 | m.11778G\>A | G11778A\-F221 | G11778A\-F221\-II2 | Fam | M | N | Y | A | 7 | / | / | / | / | LHON; visual loss; onset age 7 | Original ID: Patient 34 |
| 3 | 11778 | m.11778G\>A | G11778A\-F221 | G11778A\-F221\-II3 | Fam | M | N | Y | A | 8 | / | / | / | / | LHON; visual loss; onset age 8 | Original ID: Patient 35 |
| 4 | 11778 | m.11778G\>A | G11778A\-F221 | G11778A\-F221\-II4 | Fam | M | N | Y | A | 33 | / | / | / | / | LHON; visual loss; onset age 33 | Original ID: Patient 36 |
| 5 | 11778 | m.11778G\>A | G11778A\-F221 | G11778A\-F221\-II5 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; visual loss | Original ID: Patient 37 |

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