G11778A-F317

**Figure 1\. Pedigree diagram for family G11778A\-F317\.**

![](/media/202606/20260630165438104400.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\-F317 | Sweden | Complex I deficiency; encephalomyopathy | ND | ND | 2005 | [16044424](https://pubmed.ncbi.nlm.nih.gov/16044424/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F317 from Sweden with complex i deficiency; encephalomyopathy. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 4/5 carriers were affected, and the main clinical manifestation among affected carriers was encephalomyopathy, hearing impairment, poor vision, optic atrophy, seizures, ataxia, supraventricular tachycardia, neuropathy.

# 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\-F317 | G11778A\-F317\-II1 | Fam | M | Y | Y | ND | 19 | / | Homo | / | / | Encephalomyopathy; hearing impairment; poor vision; optic atrophy; seizures; ataxia |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F317 | G11778A\-F317\-II2 | Fam | M | N | Y | ND | 15 | / | Homo | / | / | Encephalomyopathy; hearing impairment; poor vision; optic atrophy; supraventricular tachycardia; ataxia |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F317 | G11778A\-F317\-II3 | Fam | M | N | Y | ND | 13 | / | Homo | / | / | Encephalomyopathy; hearing impairment; poor vision; optic atrophy; ataxia; neuropathy |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F317 | G11778A\-F317\-II4 | Fam | F | N | Y | ND | 5 | / | Homo | / | / | Encephalomyopathy; fatigue and dyspnea with infections; dilated cardiomyopathy; brainstem lesions |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F317 | G11778A\-F317\-II5 | Fam | F | N | ND | ND | ND | Homo | / | / | / | ND |  |

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