T3394C-F7

**Figure 1\. Pedigree diagram for family T3394C\-F7\.**

![](/media/202606/20260630034636827215.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3394 | m.3394T\>C | T3394C\-F7 | China | T2DM | 6 | 1 | 2021 | [33840063](https://pubmed.ncbi.nlm.nih.gov/33840063/) | haplogroup M9a; pedigree 2 |

The **m.3394T\>C** variant in MT\-ND1 was reported in family T3394C\-F7 from China with t2dm. The pedigree record reported 6 unaffected and 1 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 t2dm, high blood pressure, bilateral hearing loss, moderate visual impairment, mild visual impairment.

# 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 | 3394 | m.3394T\>C | T3394C\-F7 | T3394C\-F7\-II10 | Uninf | F | Y | Y | A | 66 | Homo | / | / | / | T2DM, high blood pressure, bilateral hearing loss, moderate visual impairment | haplogroup M9a |
| 2 | 3394 | m.3394T\>C | T3394C\-F7 | T3394C\-F7\-III5 | Fam | M | N | Y | A | 40 | Homo | / | / | / | T2DM, mild visual impairment | haplogroup M9a |

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