A15662G-F1

**Figure 1\. Pedigree diagram for family A15662G\-F1\.**

![](/media/202606/20260630161113521638.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15662 | m.15662A\>G | A15662G\-F1 | Austria | Leucencephalopathy, Glomerulonephritis, Hypertrabeculated Left Ventricle | 4 | 0 | 2000 | [10894993](https://pubmed.ncbi.nlm.nih.gov/10894993/) | Carrying T3398C,Carrying T4216C,Carrying G15812A |

The **m.15662A\>G** variant in MT\-CYB was reported in family A15662G\-F1 from Austria with leucencephalopathy, glomerulonephritis, hypertrabeculated left ventricle. 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 leukoencephalopathy, glomerulonephritis, hypertrabeculated left ventricle, polyneuropathy, complex mitochondriopathy.

# 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 | 15662 | m.15662A\>G | A15662G\-F1 | A15662G\-F1\-I1 | Uninf | F | N | N | A | 73 | \+ | / | / | / | Abnormal lactate stress test | A15662G detected qualitatively in leukocyte mtDNA; no numeric heteroplasmy reported. |
| 2 | 15662 | m.15662A\>G | A15662G\-F1 | A15662G\-F1\-II1 | Fam | F | N | N | A | 52 | \+ | / | / | / | Healthy | A15662G detected qualitatively in leukocyte mtDNA; no numeric heteroplasmy reported. |
| 3 | 15662 | m.15662A\>G | A15662G\-F1 | A15662G\-F1\-III1 | Fam | M | Y | Y | A | 33 | / | \>75% | / | / | Leukoencephalopathy; glomerulonephritis; hypertrabeculated left ventricle; polyneuropathy; complex mitochondriopathy | Co\-occurring T3398C, T4216C, G15812A. |
| 4 | 15662 | m.15662A\>G | A15662G\-F1 | A15662G\-F1\-III2 | Fam | M | N | N | A | 28 | \+ | / | / | / | Healthy | A15662G detected qualitatively in leukocyte mtDNA; no numeric heteroplasmy reported. |

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