G5783A-F8

**Figure 1\. Pedigree diagram for family G5783A\-F8\.**

![](/media/202606/20260622010536381228.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5783 | m.5783G\>A | G5783A\-F8 | China | Deafness | 6 | 4 | 2022 | [36039763](https://pubmed.ncbi.nlm.nih.gov/36039763/) |  |

The **m.5783G\>A** variant in MT\-TC was reported in family G5783A\-F8 from China with deafness. The pedigree record reported 6 unaffected and 4 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in all listed carriers; 5/11 carriers were affected, and the main clinical manifestation among affected carriers was moderate hearing loss, severe hearing loss.

# 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 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-I2 | uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-II1 | fam | F | N | N | A | 61 | Homo | / | / | / | Healthy |  |
| 3 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-II3 | fam | M | N | Y | A | 58 | Homo | / | / | / | Moderate hearing loss |  |
| 4 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-II6 | fam | F | N | N | A | 51 | Homo | / | / | / | Healthy |  |
| 5 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-II8 | fam | F | N | Y | A | 47 | Homo | / | / | / | Moderate hearing loss |  |
| 6 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III1 | fam | M | N | Y | A | 36 | Homo | / | / | / | Severe hearing loss |  |
| 7 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III2 | fam | F | N | N | A | 32 | Homo | / | / | / | Healthy |  |
| 8 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III3 | fam | F | N | N | A | 29 | Homo | / | / | / | Healthy |  |
| 9 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III6 | fam | F | N | N | A | 30 | Homo | / | / | / | Healthy |  |
| 10 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III7 | fam | M | Y | Y | A | 26 | Homo | / | / | / | Severe hearing loss |  |
| 11 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III8 | fam | F | N | Y | A | 21 | Homo | / | / | / | Severe hearing loss |  |

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