A3395G-F4

**Figure 1\. Pedigree diagram for family A3395G\-F4\.**

![](/media/202606/20260630031331438563.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3395 | m.3395A\>G | A3395G\-F4 | France | Hearing loss / exercise intolerance | 0 | 3 | 2020 | [32011699](https://pubmed.ncbi.nlm.nih.gov/32011699/) |  |

The **m.3395A\>G** variant in MT\-ND1 was reported in family A3395G\-F4 from France with hearing loss / exercise intolerance. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was sudden left profound deafness with tinnitus, postlingual hearing loss, progressive deafness, exercise intolerance, megacolon, hypertension, deafness, pes cavus.

# 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 | 3395 | m.3395A\>G | A3395G\-F4 | A3395G\-F4\-I1 | Uninf | F | N | Y | A | 35 | Homo | / | / | / | Sudden left profound deafness with tinnitus | Mutation found in mother of family 2 patients; age is age at deafness because examination age is not reported. |
| 2 | 3395 | m.3395A\>G | A3395G\-F4 | A3395G\-F4\-II1 | Fam | F | Y | Y | A | 25 | Homo | / | / | / | Postlingual hearing loss | No arrowed proband; first listed patient used as index. |
| 3 | 3395 | m.3395A\>G | A3395G\-F4 | A3395G\-F4\-II2 | Fam | F | N | Y | A | 32 | Homo | / | / | / | Progressive deafness, exercise intolerance, megacolon, hypertension |  |
| 4 | 3395 | m.3395A\>G | A3395G\-F4 | A3395G\-F4\-II3 | Fam | M | N | Y | A | 18 | Homo | / | / | / | Deafness, exercise intolerance, pes cavus | Family\-level homoplasmy; cybrid made from P2c platelets. |

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