T3394C-F6

**Figure 1\. Pedigree diagram for family T3394C\-F6\.**

![](/media/202606/20260630034610295290.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\-F6 | China | T2DM | 9 | 3 | 2021 | [33840063](https://pubmed.ncbi.nlm.nih.gov/33840063/) | Carrying A14693G; haplogroup Y2; pedigree 1; exclude non\-maternal III2 |

The **m.3394T\>C** variant in MT\-ND1 was reported in family T3394C\-F6 from China with t2dm. The pedigree record reported 9 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 t2dm, profound hearing loss, severe visual impairment, hypertension, chronic kidney disease, mild hearing impairment, mild visual impairment, kidney and liver functional injury.

# 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\-F6 | T3394C\-F6\-I2 | Uninf | F | N | Y | A | 85 | Homo | / | / | / | T2DM, profound hearing loss, severe visual impairment, hypertension, chronic kidney disease | Carrying A14693G; haplogroup Y2 |
| 2 | 3394 | m.3394T\>C | T3394C\-F6 | T3394C\-F6\-II2 | Fam | F | N | Y | A | 60 | Homo | / | / | / | T2DM, mild hearing impairment, mild visual impairment, kidney and liver functional injury | Carrying A14693G; haplogroup Y2 |
| 3 | 3394 | m.3394T\>C | T3394C\-F6 | T3394C\-F6\-III1 | Fam | M | Y | Y | A | 33 | Homo | / | / | / | T2DM | Carrying A14693G; haplogroup Y2 |
| 4 | 3394 | m.3394T\>C | T3394C\-F6 | T3394C\-F6\-III6 | Fam | F | N | Y | A | 30 | Homo | / | / | / | T2DM | Carrying A14693G; haplogroup Y2 |

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