T14709C-F2

**Figure 1\. Pedigree diagram for family T14709C\-F2\.**

![](/media/202606/20260626171528068363.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\-F2 | UK | Congenital encephalomyopathy, adult\-onset myopathy, diabetes mellitus | 5 | 4 | 1995 | [7726155](https://pubmed.ncbi.nlm.nih.gov/7726155/) |  |

The **m.14709T\>C** variant in MT\-TE was reported in family T14709C\-F2 from UK with congenital encephalomyopathy, adult\-onset myopathy, diabetes mellitus. The pedigree record reported 5 unaffected and 4 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in 0/10 listed carriers; 6/10 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, severe neonatal hypotonia, feeding failure, early infant death, suspected severe mitochondrial multisystem disorder, mild limb weakness, exercise intolerance, mild background diabetic retinopathy.

# 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\-F2 | T14709C\-F2\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 2 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-II2 | Fam | F | N | Y | D | 40\+ | / | / | / | / | Diabetes mellitus |  |
| 3 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-II3 | Fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 4 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-II4 | Fam | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 5 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-II5 | Fam | F | N | Y | D | 40\+ | / | / | / | / | Diabetes mellitus |  |
| 6 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-III1 | Fam | F | N | Y | D | 3 months | / | / | / | / | severe neonatal hypotonia, feeding failure, early infant death, suspected severe mitochondrial multisystem disorder |  |
| 7 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-III2 | Fam | M | N | N | A | 57 | 65% | / | / | / | Healthy |  |
| 8 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-III3 | Fam | F | N | Y | A | 50 | 75% | 85% | / | 85% (myoblasts); 85% (F) | Diabetes mellitus, mild limb weakness, exercise intolerance, mild background diabetic retinopathy, mild axonal neuropathy |  |
| 9 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-IV1 | Fam | M | Y | Y | A | 28 | 93% | 99% | / | 90% (F) | Congenital hypotonia, feeding difficulty, delayed motor and intellectual development, muscle weakness, poor coordination, unsteady gait, limb ataxia, facial weakness, cerebellar dysarthria, lumbar scoliosis, pectus carinatum bilateral pes cavus. |  |
| 10 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-IV2 | Fam | F | N | Y | A | 25 | 93% | 98% | / | / | Congenital hypotonia, developmental delay, heart failure and pulmonary hypertension in infancy, unsteady gait, exercise intolerance, muscle fatigue, intellectual disability, bilateral pes cavus, weakness, ataxia, first\-degree heart block, mild mitral regurgitation |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).