C11777A-F5

**Figure 1\. Pedigree diagram for family C11777A\-F5\.**

![](/media/202606/20260630154531042413.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 | 11777 | m.11777C\>A | C11777A\-F5 | Hungary | Leigh syndrome | 1 | 0 | 2010 | [20502985](https://pubmed.ncbi.nlm.nih.gov/20502985/) |  |

The **m.11777C\>A** variant in MT\-ND4 was reported in family C11777A\-F5 from Hungary with leigh syndrome. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, myoclonus day 5, seizures, cerebral paresis and hypotonia, mri brainstem lesions, cardiorespiratory arrest.

# 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 | 11777 | m.11777C\>A | C11777A\-F5 | C11777A\-F5\-IV1 | Fam | M | Y | Y | D | 17 months | 50% | 60% | / | 60%(Liver) | Leigh syndrome; myoclonus day 5; seizures, cerebral paresis and hypotonia; MRI brainstem lesions; cardiorespiratory arrest |  |
| 2 | 11777 | m.11777C\>A | C11777A\-F5 | C11777A\-F5\-III1 | Fam | F | N | N | A | ND | \<3% | / | / | / | Healthy |  |

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