T14709C-F3

**Figure 1\. Pedigree diagram for family T14709C\-F3\.**

![](/media/202607/20260721171434167021.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\-F3 | France | Myopathy, diabetes mellitus | 13 | 3 | 1997 | [9353617](https://pubmed.ncbi.nlm.nih.gov/9353617/) |  |

The **m.14709T\>C** variant in MT\-TE was reported in family T14709C\-F3 from France with myopathy, diabetes mellitus. The pedigree record reported 13 unaffected and 3 affected maternal relatives, and the carrier table includes 13 listed carriers. Homoplasmy was reported in 0/13 listed carriers; 4/13 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, stroke\-like episodes, severe myopathy, high\-frequency hearing impairment, mild retinal pigmentary epithelium alteration.

# 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\-F3 | T14709C\-F3\-I1 | Uninf | F | N | Y | D | 60 | / | / | / | / | Diabetes mellitus, stroke\-like episodes |  |
| 2 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II1 | Fam | F | N | N | A | ND | 31% | / | / | / | Healthy |  |
| 3 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II3 | Fam | M | Y | Y | A | 47 | 65% | 78% | / | / | Diabetes mellitus, severe myopathy, high\-frequency hearing impairment, mild retinal pigmentary epithelium alteration |  |
| 5 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 6 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II5 | Fam | F | N | N | A | ND | 29% | / | / | / | Glucose intolerance, mild high\-frequency hearing defect |  |
| 7 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II6 | Fam | M | N | Y | A | 39 | / | / | / | / | Diabetes mellitus |  |
| 8 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II7 | Fam | M | N | Y | A | 39 | / | / | / | / | Diabetes mellitus |  |
| 9 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II8 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 10 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-III1 | Fam | F | N | N | A | ND | 3% | / | / | / | Healthy |  |
| 11 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 12 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-III3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 13 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-IV1 | Fam | F | N | N | A | ND | 24% | / | / | / | Healthy |  |

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