G15812A-F1

**Figure 1\. Pedigree diagram for family G15812A\-F1\.**

![](/media/202606/20260630162934248012.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15812 | m.15812G\>A | G15812A\-F1 | Austria | Mitochondrial Complexopathy, Left Ventricular Hypertrabeculation, Glomerulonephritis, Sensorimotor Polyneuropathy, Leucencephalopathy, Cataract, Diabetes Mellitus | 4 | 0 | 2000 | [10894993](https://pubmed.ncbi.nlm.nih.gov/10894993/) |  |

The **m.15812G\>A** variant in MT\-CYB was reported in family G15812A\-F1 from Austria with mitochondrial complexopathy, left ventricular hypertrabeculation, glomerulonephritis, sensorimotor polyneuropathy, leucencephalopathy, cataract, diabetes mellitus. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was mitochondrial complexopathy, left ventricular hypertrabeculation, glomerulonephritis, sensorimotor polyneuropathy, leucencephalopathy, cataract, diabetes mellitus.

# 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 | 15812 | m.15812G\>A | G15812A\-F1 | G15812A\-F1\-I1 | Uninf | F | N | N | A | 73 | \+ | / | / | / | Abnormal lactate stress test | Co\-occurring A15662G and T3398C; qualitative leukocyte detection. |
| 2 | 15812 | m.15812G\>A | G15812A\-F1 | G15812A\-F1\-II1 | Fam | F | N | N | A | 52 | \+ | / | / | / | Healthy | Co\-occurring A15662G and T3398C; qualitative leukocyte detection. |
| 3 | 15812 | m.15812G\>A | G15812A\-F1 | G15812A\-F1\-III1 | Fam | M | Y | Y | A | 33 | / | \>75% | / | / | Mitochondrial Complexopathy, Left Ventricular Hypertrabeculation, Glomerulonephritis, Sensorimotor Polyneuropathy, Leucencephalopathy, Cataract, Diabetes Mellitus | Co\-occurring A15662G and T3398C. |
| 4 | 15812 | m.15812G\>A | G15812A\-F1 | G15812A\-F1\-III2 | Fam | M | N | N | A | 28 | \+ | / | / | / | Healthy | Co\-occurring A15662G and T3398C; qualitative leukocyte detection. |

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