A7445G-F4

**Figure 1\. Pedigree diagram for family A7445G\-F4\.**

![](/media/202606/20260626162355512536.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7445 | m.7445A\>G | A7445G\-F4 | France | Palmoplantar keratoderma and sensorineural hearing loss | 5 | 3 | 2000 | [11069477](https://pubmed.ncbi.nlm.nih.gov/11069477/) |  |

The **m.7445A\>G** variant in MT\-CO1 was reported in family A7445G\-F4 from France with palmoplantar keratoderma and sensorineural hearing loss. The pedigree record reported 5 unaffected and 3 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was plantar keratoderma, bilateral sensorineural deafness, moderate sensorineural 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 | 7445 | m.7445A\>G | A7445G\-F4 | A7445G\-F4\-III1 | Fam | F | Y | Y | A | 15 | Homo | / | / | / | Plantar keratoderma, bilateral sensorineural deafness |  |
| 2 | 7445 | m.7445A\>G | A7445G\-F4 | A7445G\-F4\-III2 | Fam | M | N | Y | A | 11 | Homo | / | / | / | Moderate sensorineural hearing loss |  |

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