C15620A-F1

**Figure 1\. Pedigree diagram for family C15620A\-F1\.**

![](/media/202606/20260630161556921442.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15620 | m.15620C\>A | C15620A\-F1 | China | Leigh Syndrome, Tremor, Esotropia | 1 | 0 | 2014 | [24062162](https://pubmed.ncbi.nlm.nih.gov/24062162/) |  |

The **m.15620C\>A** variant in MT\-CYB was reported in family C15620A\-F1 from China with leigh syndrome, tremor, esotropia. 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 leigh syndrome, developmental delay, tremor, esotropia, gait difficulty, lactic acidosis, mri lesions.

# 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 | 15620 | m.15620C\>A | C15620A\-F1 | C15620A\-F1\-I1 | Uninf | F | N | N | A | 30 | 57% | / | / | / | Healthy | Co\-occurring G11778A; mother muscle unavailable. |
| 2 | 15620 | m.15620C\>A | C15620A\-F1 | C15620A\-F1\-II1 | Fam | M | Y | Y | A | 3 | / | \>90% | / | / | Leigh syndrome; developmental delay; tremor; esotropia; gait difficulty; lactic acidosis; MRI lesions | Co\-occurring G11778A. |

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