G9267C-F1

**Figure 1\. Pedigree diagram for family G9267C\-F1\.**

![](/media/202606/901ec84a9d5c47b78e30b59c0745672a3663.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9267 | m.9267G\>C | G9267C\-F1 | Tunisia | Maternally inherited diabetes and deafness; high blood pressure; severe nephropathy in II.1 | 1 | 2 | 2015 | [25701779](https://pubmed.ncbi.nlm.nih.gov/25701779/) |  |

The **m.9267G\>C** variant in MT\-CO3 was reported in family G9267C\-F1 from Tunisia with maternally inherited diabetes and deafness; high blood pressure; severe nephropathy in ii.1\. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was mitochondrial diabetes, deafness, high blood pressure, severe nephropathy.

# 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 | 9267 | m.9267G\>C | G9267C\-F1 | G9267C\-F1\-I1 | Uninf | F | ND | Y | A | 57 | / | / | / | / | Mitochondrial diabetes, deafness, high blood pressure |  |
| 2 | 9267 | m.9267G\>C | G9267C\-F1 | G9267C\-F1\-II1 | Fam | F | ND | Y | A | 21 | / | / | / | / | Mitochondrial diabetes, deafness, high blood pressure, severe nephropathy |  |
| 3 | 9267 | m.9267G\>C | G9267C\-F1 | G9267C\-F1\-II2 | Fam | F | ND | Y | A | 27 | / | / | / | / | Mitochondrial diabetes, deafness, high blood pressure |  |
| 4 | 9267 | m.9267G\>C | G9267C\-F1 | G9267C\-F1\-III1 | Fam | M | N | N | A | 2 | 0% | / | / | / | Unaffected for mitochondrial diabetes, deafness, high blood pressure, and nephropathy in Table 1 |  |

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