T14709C-F7

**Figure 1\. Pedigree diagram for family T14709C\-F7\.**

![](/media/202606/20260626171708569274.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14709 | m.14709T\>C | T14709C\-F7 | USA | Myopathy, diabetes mellitus | 1 | 1 | 2005 | [15607216](https://pubmed.ncbi.nlm.nih.gov/15607216/) |  |

The **m.14709T\>C** variant in MT\-TE was reported in family T14709C\-F7 from USA with myopathy, diabetes mellitus. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was gestational diabetes, severe congenital myopathy, respiratory distress, mild mental retardation.

# 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 | 14709 | m.14709T\>C | T14709C\-F7 | T14709C\-F7\-I2 | Uninf | F | N | Y | A | ND | 42% | / | 46% | / | Gestational diabetes |  |
| 2 | 14709 | m.14709T\>C | T14709C\-F7 | T14709C\-F7\-II1 | Fam | M | Y | Y | A | 21 months | / | 93% | / | / | Severe congenital myopathy, respiratory distress, mild mental retardation |  |
| 3 | 14709 | m.14709T\>C | T14709C\-F7 | T14709C\-F7\-II2 | Fam | F | N | N | A | ND | 46% | / | 50% | / | Healthy |  |

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