G11778A-F331

**Figure 1\. Pedigree diagram for family G11778A\-F331\.**

![](/media/202606/20260630165710473784.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\-F331 | Croatia | LHON | 5 | 1 | 2006 | [16617593](https://pubmed.ncbi.nlm.nih.gov/16617593/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F331 from Croatia with lhon. The pedigree record reported 5 unaffected and 1 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in all listed carriers; 1/6 carriers were affected, and the main clinical manifestation among affected carriers was lhon, bilateral visual loss, central scotomas, papill oedema.

# 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\-F331 | G11778A\-F331\-II1 | Fam | M | Y | Y | A | 26 | Homo | / | / | / | LHON; bilateral visual loss; central scotomas; papill oedema | Original ID: Patient 3 |
| 2 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy; arterial hypertension | Original ID: Patient 3 |
| 3 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original ID: Patient 3 |
| 4 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original ID: Patient 3 |
| 5 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II5 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).