A4295G-F4

**Figure 1\. Pedigree diagram for family A4295G\-F4\.**

![](/media/202607/A4295G-F4-pedigree_20260701023053584205.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4295 | m.4295A\>G | A4295G\-F4 | China | Maternally inherited deafness | 5 | 8 | 2021 | [33398350](https://pubmed.ncbi.nlm.nih.gov/33398350/) |  |

The **m.4295A\>G** variant in MT\-TI was reported in family A4295G\-F4 from China with maternally inherited deafness. The pedigree record reported 5 unaffected and 8 affected maternal relatives, and the carrier table includes 14 listed carriers. Homoplasmy was reported in all listed carriers; 9/14 carriers were affected, and the main clinical manifestation among affected carriers was maternally inherited deafness.

# 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 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-I2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-II2 | Fam | F | N | Y | A | 61 | Homo | / | / | / | Maternally inherited deafness |  |
| 3 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-II4 | Fam | F | N | N | A | 58 | Homo | / | / | / | Healthy |  |
| 4 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-II6 | Fam | F | N | Y | A | 55 | Homo | / | / | / | Maternally inherited deafness |  |
| 5 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-II7 | Fam | M | N | Y | A | 53 | Homo | / | / | / | Maternally inherited deafness |  |
| 6 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-II9 | Fam | M | N | Y | A | 50 | Homo | / | / | / | Maternally inherited deafness |  |
| 7 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-III1 | Fam | M | N | Y | A | 33 | Homo | / | / | / | Maternally inherited deafness |  |
| 8 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-III2 | Fam | F | N | Y | A | 28 | Homo | / | / | / | Maternally inherited deafness |  |
| 9 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-III3 | Fam | M | N | Y | A | 29 | Homo | / | / | / | Maternally inherited deafness |  |
| 10 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 11 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-III5 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 12 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-III6 | Fam | F | N | Y | A | 27 | Homo | / | / | / | Maternally inherited deafness |  |
| 13 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-III7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 14 | 4295 | m.4295A\>G | A4295G\-F4 | A4295G\-F4\-III8 | Fam | M | Y | Y | A | 24 | Homo | / | / | / | Maternally inherited deafness |  |

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