G11778A-F330

**Figure 1\. Pedigree diagram for family G11778A\-F330\.**

![](/media/202606/20260630165638432964.png)

|  |
| --- |

# 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\-F330 | Croatia | LHON | 3 | 2 | 2006 | [16617593](https://pubmed.ncbi.nlm.nih.gov/16617593/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F330 from Croatia with lhon. The pedigree record reported 3 unaffected and 2 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 4/5 listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was lhon, severe visual impairment, bilateral visual loss, central scotoma, papill oedema and telangiectatic microangiopathy, sudden bilateral visual loss at age 17, va 0\.01\.

# 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\-F330 | G11778A\-F330\-II1 | Fam | M | Y | Y | A | 26 | Homo | / | / | / | LHON; severe visual impairment; bilateral visual loss; central scotoma; papill oedema and telangiectatic microangiopathy | Original ID: Patient 1 |
| 2 | 11778 | m.11778G\>A | G11778A\-F330 | G11778A\-F330\-II2 | Fam | M | N | Y | A | 25 | Homo | / | / | / | LHON; sudden bilateral visual loss at age 17; VA 0\.01 | Original ID: Patient 2, Patient 1 |
| 3 | 11778 | m.11778G\>A | G11778A\-F330 | G11778A\-F330\-II3 | Fam | F | N | N | A | 50 | Homo | / | / | / | Healthy | Original ID: Patient 1 |
| 4 | 11778 | m.11778G\>A | G11778A\-F330 | G11778A\-F330\-II4 | Fam | F | N | N | A | 53 | Homo | / | / | / | Healthy | Original ID: Patient 2 |
| 5 | 11778 | m.11778G\>A | G11778A\-F330 | G11778A\-F330\-II5 | Fam | F | N | N | A | ND | 20% | / | / | / | Healthy | Original ID: Patient 2 |

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