G3955A-F1

**Figure 1\. Pedigree diagram for family G3955A\-F1\.**

![](/media/202606/20260630034041884215.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3955 | m.3955G\>A | G3955A\-F1 | China | Leigh syndrome | 0 | 0 | 2022 | [34656796](https://pubmed.ncbi.nlm.nih.gov/34656796/) |  |

The **m.3955G\>A** variant in MT\-ND1 was reported in family G3955A\-F1 from China with leigh syndrome. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 1 listed carriers. Homoplasmy was reported in 0/1 listed carriers; 1/1 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome with seizures, neurodegeneration, elevated lactate, brainstem, basal ganglia, thalamic lesions.

# 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 | 3955 | m.3955G\>A | G3955A\-F1 | G3955A\-F1\-II3 | De novo | M | Y | Y | A | 7 mo | 86\.3% | / | 92\.7% | 77\.0% (H); 89\.2% (F); 68\.7% (nail) | Leigh syndrome with seizures, neurodegeneration, elevated lactate, brainstem/basal ganglia/thalamic lesions | Mother and two older sisters negative in tested tissues. |

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