A3243G-F645

**Figure 1\. Pedigree diagram for family A3243G\-F645\.**

![](/media/202607/A3243G-F645-pedigree_20260701032017718929.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\-F645 | China | MELAS/cardiomyopathy in a pedigree carrying m.3243A\>G and homoplasmic m.3290T\>C | 9 | 1 | 2025 | [40514671](https://pubmed.ncbi.nlm.nih.gov/40514671/) | Figure 1/Table 1 pedigree family; includes positive carriers and eligible negative\-tested maternal\-line branch stops. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F645 from China with melas/cardiomyopathy in a pedigree carrying m.3243a\>g and homoplasmic m.3290t\>c. The pedigree record reported 9 unaffected and 1 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 0/11 listed carriers; 2/11 carriers were affected, and the main clinical manifestation among affected carriers was hypertension, tachycardia and liver cirrhosis, returned to normal after treatment, melas onset at 20 days with dyspnea and pneumonia, died of heart failure at 2\.5 years.

# 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\-F645 | A3243G\-F645\-III3 | Fam | M | N | N | A | ND | 84\.45% | / | / | / | Increased heart rate occasionally; Otherwise reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 2 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV2 | Fam | F | N | N | A | 47 | 86\.90% | / | / | 77\.89%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 3 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV3 | Fam | M | N | Y | A | 46 | 80\.20% | / | / | / | Hypertension, tachycardia and liver cirrhosis; Returned to normal after treatment | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 4 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV6 | Fam | F | N | N | A | ND | 30\.75% | / | / | 31\.30%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 5 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV7 | Fam | F | N | N | A | ND | 29\.70% | / | / | 28\.80%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 6 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-V1 | Fam | F | N | N | A | 27 | 88\.87% | / | / | 88\.95%(ND); 88\.87%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article; Mother of proband |
| 7 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-V2 | Fam | M | N | N | A | 24 | 66\.00% | / | / | 76\.35%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 8 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-VI1 | Fam | M | Y | Y | D | 2\.5 | 98\.43% | / | / | / | MELAS onset at 20 days with dyspnea and pneumonia; Died of heart failure at 2\.5 years | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 9 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-III4 | Fam | M | N | N | A | ND | 0 | / | / | / | Reported normal | Eligible negative\-tested maternal\-line record; tested tissue result is recorded as 0 and the branch is a stop for downstream extension; blood m.3243A\>G not detected |
| 10 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV4 | Fam | F | N | N | A | ND | 0 | / | / | 0%(BM) | Reported normal | Eligible negative\-tested maternal\-line record; tested tissue result is recorded as 0 and the branch is a stop for downstream extension; blood and buccal mucosa m.3243A\>G not detected |
| 11 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-V3 | Fam | F | N | N | A | ND | 0 | / | / | 0%(BM) | Reported normal | Eligible negative\-tested maternal\-line record; tested tissue result is recorded as 0 and the branch is a stop for downstream extension; blood and buccal mucosa m.3243A\>G not detected |

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