G3955A-F2

**Figure 1\. Pedigree diagram for family G3955A\-F2\.**

![](/media/202606/20260630034106770319.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\-F2 | 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\-F2 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 developmental delay, seizures, neurodegeneration and elevated lactate.

# 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\-F2 | G3955A\-F2\-II2 | De novo | M | Y | Y | D | 5 mo | 90\.7% | / | / | / | Leigh syndrome with developmental delay, seizures, neurodegeneration and elevated lactate | Died at 11 mo; mother and older brother blood negative. |

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