G3955A

# **General Information**

| **Position** | **3955** | **Variant** | **m.3955G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **A217T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.3955G\>A** variant in MT\-ND1 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 68\.7% to 92\.7%, with a median of 87\.8% overall; affected carriers showed mutation loads from 68\.7% to 92\.7%, with a median of 87\.8%. The main clinical manifestations among affected carriers included leigh syndrome with developmental delay, leigh syndrome with seizures, basal ganglia, brainstem, elevated lactate, neurodegeneration, neurodegeneration and elevated lactate, seizures, and other features.

| **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](https://mitofam.com/doc/1461/) | China | Leigh syndrome | 0 | 0 | 2022 | [34656796](https://pubmed.ncbi.nlm.nih.gov/34656796/) |  |
| 2 | 3955 | m.3955G\>A | [G3955A\-F2](https://mitofam.com/doc/1462/) | China | Leigh syndrome | 0 | 0 | 2022 | [34656796](https://pubmed.ncbi.nlm.nih.gov/34656796/) |  |

# **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. |
| 2 | 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. |

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