G15699C-F1

**Figure 1\. Pedigree diagram for family G15699C\-F1\.**

![](/media/202606/20260630162650600401.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15699 | m.15699G\>C | G15699C\-F1 | UK | Mitochondrial Leukoencephalopathy, Deafness, Migraine, Myopathy | 1 | 0 | 2005 | [16008558](https://pubmed.ncbi.nlm.nih.gov/16008558/) |  |

The **m.15699G\>C** variant in MT\-CYB was reported in family G15699C\-F1 from UK with mitochondrial leukoencephalopathy, deafness, migraine, myopathy. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was mitochondrial leukoencephalopathy, deafness, migraine, myopathy.

# 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 | 15699 | m.15699G\>C | G15699C\-F1 | G15699C\-F1\-I1 | De novo | F | Y | Y | ND | 38 | 13% | 88% | 16% | 14% (H) | Mitochondrial Leukoencephalopathy, Deafness, Migraine, Myopathy |  |
| 2 | 15699 | m.15699G\>C | G15699C\-F1 | G15699C\-F1\-II1 | Fam | M | N | N | A | 10 | / | / | 0 | / | Healthy | Eligible negative\-tested maternal\-line descendant: mother/proband P1 has confirmed G15699C mutant loads; son urinary epithelial cells negative. |

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