G5913A-F1

**Figure 1\. Pedigree diagram for family G5913A\-F1\.**

![](/media/202606/20260626162840777636.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5913 | m.5913G\>A | G5913A\-F1 | Tunisia | MIDD, deafness, high blood pressure, nephropathy | 1 | 3 | 2015 | [25701779](https://pubmed.ncbi.nlm.nih.gov/25701779/) | Carrying G9267C |

The **m.5913G\>A** variant in MT\-CO1 was reported in family G5913A\-F1 from Tunisia with midd, deafness, high blood pressure, nephropathy. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was midd, deafness, high blood pressure, 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 | 5913 | m.5913G\>A | G5913A\-F1 | G5913A\-F1\-I1 | Uninf | F | ND | Y | ND | 57 | Homo | / | / | / | MIDD, deafness, high blood pressure | Carrying G9267C |
| 2 | 5913 | m.5913G\>A | G5913A\-F1 | G5913A\-F1\-II1 | Fam | F | ND | Y | ND | 21 | Homo | / | / | / | MIDD, deafness, high blood pressure | Carrying G9267C |
| 3 | 5913 | m.5913G\>A | G5913A\-F1 | G5913A\-F1\-II3 | Fam | F | ND | Y | ND | 27 | Homo | / | / | / | MIDD, deafness, high blood pressure, nephropathy | Carrying G9267C |
| 4 | 5913 | m.5913G\>A | G5913A\-F1 | G5913A\-F1\-III1 | Fam | M | ND | N | ND | 2 | Homo | / | / | / | Healthy |  |

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