G15077A-F1

**Figure 1\. Pedigree diagram for family G15077A\-F1\.**

![](/media/202606/20260630161753866348.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15077 | m.15077G\>A | G15077A\-F1 | China | Cerebral infarction, hypertension, hyperlipidemia, abnormal muscle metabolism, aortic valve calcification, left ventricular dysfunction | 1 | 7 | 2022 | [34346491](https://pubmed.ncbi.nlm.nih.gov/34346491/) | Co\-occurring m.15992A\>G. |

The **m.15077G\>A** variant in MT\-CYB was reported in family G15077A\-F1 from China with cerebral infarction, hypertension, hyperlipidemia, abnormal muscle metabolism, aortic valve calcification, left ventricular dysfunction. The pedigree record reported 1 unaffected and 7 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in all listed carriers; 8/9 carriers were affected, and the main clinical manifestation among affected carriers was cerebral infarction, essential hypertension, hyperlipidemia, hypertension, abnormal muscle metabolism, aortic valve calcification, left ventricular dysfunction, renal calcification.

# 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 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-I2 | Uninf | F | N | Y | D | ND | Homo | / | / | / | Cerebral infarction | Co\-occurring m.15992A\>G. |
| 2 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-II1 | Fam | M | N | Y | A | 68 | Homo | / | / | / | Essential hypertension, hyperlipidemia | Co\-occurring m.15992A\>G. |
| 3 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-II3 | Fam | F | N | Y | A | 65 | Homo | / | / | / | Essential hypertension, hyperlipidemia | Co\-occurring m.15992A\>G. |
| 4 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-II5 | Fam | F | Y | Y | A | 63 | Homo | / | / | / | Hypertension, abnormal muscle metabolism, aortic valve calcification, left ventricular dysfunction, cerebral infarction | Co\-occurring m.15992A\>G. |
| 5 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-II7 | Fam | M | N | Y | A | 58 | Homo | / | / | / | Essential hypertension | Co\-occurring m.15992A\>G. |
| 6 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-III3 | Fam | F | N | Y | A | 42 | Homo | / | / | / | Essential hypertension, hyperlipidemia, renal calcification | Co\-occurring m.15992A\>G. |
| 7 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-III4 | Fam | M | N | N | A | 40 | Homo | / | / | / | Hyperlipidemia | Co\-occurring m.15992A\>G. |
| 8 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-III5 | Fam | M | N | Y | A | 42 | Homo | / | / | / | Essential hypertension, hyperlipidemia | Co\-occurring m.15992A\>G. |
| 9 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-III6 | Fam | F | N | Y | A | 40 | Homo | / | / | / | Essential hypertension, hyperlipidemia | Co\-occurring m.15992A\>G. |

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