A3243G-F214

**Figure 1\. Pedigree diagram for family A3243G\-F214\.**

![](/media/202607/A3243G-F214-pedigree_20260701030118169664.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F214 | China | Leigh syndrome\-like mitochondrial encephalopathy | 0 | 0 | 1997 | [9323566](https://pubmed.ncbi.nlm.nih.gov/9323566/) | Case 2 from Macau; relatives are molecular\-positive by text but tissue/load and phenotype are not reported. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F214 from China with leigh syndrome\-like mitochondrial encephalopathy. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome\-like encephalopathy, seizures from 5 yr, mental deterioration, extrapyramidal signs, gait ataxia, basal ganglia ct lesions, complex i, iv deficiency.

# 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 | 3243 | m.3243A\>G | A3243G\-F214 | A3243G\-F214\-P1 | Fam | M | Y | Y | ND | 10 | / | 73% | / | / | Leigh syndrome\-like encephalopathy; Seizures from 5 yr; Mental deterioration; Extrapyramidal signs; Gait ataxia; Basal ganglia CT lesions; Complex I/IV deficiency | Case 2; A3243G detected in 73% of muscle mitochondrial genomes. |
| 2 | 3243 | m.3243A\>G | A3243G\-F214 | A3243G\-F214\-P2 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Mother; mutation found in relatives, but tissue, load, and phenotype are not reported. |
| 3 | 3243 | m.3243A\>G | A3243G\-F214 | A3243G\-F214\-P3 | Fam | M | N | ND | ND | ND | / | / | / | / | ND | Brother; mutation found in relatives, but tissue, load, and phenotype are not reported. |
| 4 | 3243 | m.3243A\>G | A3243G\-F214 | A3243G\-F214\-P4 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Sister; mutation found in relatives, but tissue, load, and phenotype are not reported. |

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