A4295G-F3

**Figure 1\. Pedigree diagram for family A4295G\-F3\.**

![](/media/202607/A4295G-F3-pedigree_20260701023045027028.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\-F3 | France | Nonsyndromic hearing loss | 2 | 4 | 2012 | [22241583](https://pubmed.ncbi.nlm.nih.gov/22241583/) |  |

The **m.4295A\>G** variant in MT\-TI was reported in family A4295G\-F3 from France with nonsyndromic hearing loss. The pedigree record reported 2 unaffected and 4 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in all listed carriers; 5/7 carriers were affected, and the main clinical manifestation among affected carriers was nonsyndromic 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 | 4295 | m.4295A\>G | A4295G\-F3 | A4295G\-F3\-I2 | Uninf | F | N | Y | D | ND | Homo | / | / | / | Nonsyndromic hearing loss |  |
| 2 | 4295 | m.4295A\>G | A4295G\-F3 | A4295G\-F3\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Nonsyndromic hearing loss |  |
| 3 | 4295 | m.4295A\>G | A4295G\-F3 | A4295G\-F3\-III1 | Fam | F | N | Y | A | ND | Homo | / | / | / | Nonsyndromic hearing loss |  |
| 4 | 4295 | m.4295A\>G | A4295G\-F3 | A4295G\-F3\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 5 | 4295 | m.4295A\>G | A4295G\-F3 | A4295G\-F3\-III3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 6 | 4295 | m.4295A\>G | A4295G\-F3 | A4295G\-F3\-III4 | Fam | F | Y | Y | A | ND | Homo | / | / | / | Nonsyndromic hearing loss |  |
| 7 | 4295 | m.4295A\>G | A4295G\-F3 | A4295G\-F3\-III5 | Fam | F | N | Y | A | ND | Homo | / | / | / | Nonsyndromic hearing loss |  |

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