A4300G-F4

**Figure 1\. Pedigree diagram for family A4300G\-F4\.**

![](/media/202607/A4300G-F4-pedigree_20260701023128862647.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 | 4300 | m.4300A\>G | A4300G\-F4 | Italy | Hypertrophic cardiomyopathy | 43 | 13 | 1999 | [10334428](https://pubmed.ncbi.nlm.nih.gov/10334428/) |  |

The **m.4300A\>G** variant in MT\-TI was reported in family A4300G\-F4 from Italy with hypertrophic cardiomyopathy. The pedigree record reported 43 unaffected and 13 affected maternal relatives, and the carrier table includes 31 listed carriers. Homoplasmy was reported in 0/31 listed carriers; 13/31 carriers were affected, and the main clinical manifestation among affected carriers was cardiac death, hypertrophic cardiomyopathy, left ventricular hypertrophy, dyspnea, chest pain.

# 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 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-II1 | Fam | F | N | N | A | 83 | 62% | / | / | / | Healthy |  |
| 2 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-II7 | Fam | F | N | Y | D | 41 | / | / | / | / | Cardiac death |  |
| 3 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III1 | Fam | F | N | N | A | 56 | 88% | / | / | / | Healthy |  |
| 4 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III2 | Fam | F | N | Y | A | 54 | / | / | / | / | Cardiac death |  |
| 5 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III3 | Fam | F | N | N | A | 54 | 95% | / | / | / | Dyspnea,left ventricular hypertrophy |  |
| 6 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III4 | Fam | F | N | N | A | 51 | 40% | / | / | / | Healthy |  |
| 7 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III5 | Fam | M | N | N | A | 56 | 82% | / | / | / | Dyspnea,left ventricular hypertrophy |  |
| 8 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III13 | Fam | F | N | Y | A | 45 | 100% | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 9 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III14 | Fam | F | N | N | A | 43 | 100% | / | / | / | Healthy |  |
| 10 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III15 | Fam | F | N | Y | A | 42 | 92% | / | / | / | Hypertrophic cardiomyopathy,dyspnea,chest pain,left ventricular hypertrophy |  |
| 11 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III16 | Fam | F | N | Y | D | 33 | / | / | / | / | Cardiac death |  |
| 12 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III23 | Fam | M | N | N | A | 44 | / | / | / | / | Lung cancer,left ventricular hypertrophy |  |
| 13 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV1 | Fam | M | Y | Y | A | 37 | 95% | 99% | / | 99%(heart) | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 14 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV2 | Fam | F | N | N | A | 29 | 87% | / | / | / | Healthy |  |
| 15 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV3 | Fam | F | N | Y | A | 36 | 95% | / | / | / | Hypertrophic cardiomyopathy,dyspnea,left ventricular hypertrophy |  |
| 16 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV5 | Fam | M | N | Y | A | 33 | / | / | / | / | Hypertrophic cardiomyopathy,chest pain,left ventricular hypertrophy |  |
| 17 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV7 | Fam | F | N | N | A | 23 | 92% | / | / | / | Healthy |  |
| 18 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV8 | Fam | M | N | Y | A | 19 | 13% | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 19 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV9 | Fam | F | N | Y | A | 28 | 76% | / | / | / | Hypertrophic cardiomyopathy,dyspnea,left ventricular hypertrophy |  |
| 20 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV20 | Fam | M | N | Y | A | 25 | 94% | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 21 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV22 | Fam | F | N | N | A | 24 | 100% | / | / | / | Healthy |  |
| 22 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV23 | Fam | M | N | Y | A | 23 | 90% | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 23 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV24 | Fam | F | N | N | A | 24 | 93% | / | / | / | Healthy |  |
| 24 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV25 | Fam | F | N | N | A | 25 | 95% | / | / | / | Healthy |  |
| 25 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV26 | Fam | F | N | N | A | 16 | / | / | / | / | Healthy |  |
| 26 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV27 | Fam | M | N | N | A | 20 | / | / | / | / | Healthy |  |
| 27 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V1 | Fam | M | N | N | A | 10 | / | / | / | / | Healthy |  |
| 28 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V2 | Fam | M | N | N | A | 5 | / | / | / | / | Healthy |  |
| 29 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V5 | Fam | F | N | N | A | 10 | 88% | / | / | / | Healthy |  |
| 30 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V6 | Fam | F | N | N | A | 12 | 93% | / | / | / | Healthy |  |
| 31 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V14 | Fam | F | N | Y | A | 7 | / | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |

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