T14709C

# **General Information**

| **Position** | **14709** | **Variant** | **m.14709T\>C** | **Locus** | **MT\-TE** | **RNA** | **tRNA Glu** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.14709T\>C** variant in MT\-TE has been reported in 10 pedigrees. To date, 73 carriers have been reported. Reported mutation loads ranged from 0% to 100%, with a median of 79\.5% overall. In one carrier, a marked tissue\-specific difference was observed, with higher mutation loads in hair (44%) than in blood (21%). In one carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (70%) than in blood (35%). Similar tissue\-specific differences were observed in 1 additional carriers. The main clinical manifestations among affected carriers included No specific clinical features were available for affected carriers..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14709 | m.14709T\>C | [T14709C\-F1](https://mitofam.com/doc/950/) | USA | Myopathy, diabetes mellitus | 6 | 0 | 1995 | [7726154](https://pubmed.ncbi.nlm.nih.gov/7726154/) |  |
| 2 | 14709 | m.14709T\>C | [T14709C\-F2](https://mitofam.com/doc/951/) | UK | Congenital encephalomyopathy, adult\-onset myopathy, diabetes mellitus | 5 | 4 | 1995 | [7726155](https://pubmed.ncbi.nlm.nih.gov/7726155/) |  |
| 3 | 14709 | m.14709T\>C | [T14709C\-F3 ](https://mitofam.com/doc/952/)| France | Myopathy, diabetes mellitus | 13 | 3 | 1997 | [9353617](https://pubmed.ncbi.nlm.nih.gov/9353617/) |  |
| 4 | 14709 | m.14709T\>C | [T14709C\-F4](https://mitofam.com/doc/953/) | USA | Myopathy, diabetes mellitus | 1 | 1 | 1999 | [10392369](https://pubmed.ncbi.nlm.nih.gov/10392369/) |  |
| 5 | 14709 | m.14709T\>C | [T14709C\-F5](https://mitofam.com/doc/954/) | Italy | Diabetes mellitus, deafness | 3 | 3 | 2001 | [11437868](https://pubmed.ncbi.nlm.nih.gov/11437868/) |  |
| 6 | 14709 | m.14709T\>C | [T14709C\-F6 ](https://mitofam.com/doc/955/)| UK | Myopathy, diabetes mellitus | 29 | 14 | 2004 | [15048886](https://pubmed.ncbi.nlm.nih.gov/15048886/) |  |
| 7 | 14709 | m.14709T\>C | [T14709C\-F7](https://mitofam.com/doc/956/) | USA | Myopathy, diabetes mellitus | 1 | 1 | 2005 | [15607216](https://pubmed.ncbi.nlm.nih.gov/15607216/) |  |
| 8 | 14709 | m.14709T\>C | [T14709C\-F8 ](https://mitofam.com/doc/957/)| Italy | Myopathy, diabetes mellitus | 2 | 2 | 2005 | [15607216](https://pubmed.ncbi.nlm.nih.gov/15607216/) |  |
| 9 | 14709 | m.14709T\>C | [T14709C\-F9](https://mitofam.com/doc/958/) | Tunisia | Diabetes mellitus, retinitis pigmentosa | 8 | 4 | 2010 | [20045353](https://pubmed.ncbi.nlm.nih.gov/20045353/) |  |
| 10 | 14709 | m.14709T\>C | [T14709C\-F10 ](https://mitofam.com/doc/959/)| Tunisia | Diabetes mellitus, high blood pressure | 6 | 8 | 2010 | [20045353](https://pubmed.ncbi.nlm.nih.gov/20045353/) |  |

# **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\-F1 | T14709C\-F1\-I1 | Uninf | F | N | N | A | ND | 51% | / | / | 41% (H) | Healthy |  |
| 2 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-II1 | Fam | M | N | N | A | ND | 21% | / | / | 44% (H) | Healthy |  |
| 3 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-II2 | Fam | M | N | N | A | ND | 22% | / | / | 32% (H) | Healthy |  |
| 4 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-II3 | Fam | F | N | N | A | ND | 65% | / | / | 71% (H) | Healthy |  |
| 5 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-III1 | Fam | M | N | N | A | ND | 79% | / | / | 90% (H) | Healthy |  |
| 6 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-III2 | Fam | F | N | N | A | ND | 55% | / | / | 79% (H) | Healthy |  |
| 7 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-III3 | Fam | M | Y | Y | A | 29 | 88% | 94% | / | 93% (H) | Myopathy, mild pyramidal signs, diabetes mellitus |  |
| 8 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 9 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-II2 | Fam | F | N | Y | D | 40\+ | / | / | / | / | Diabetes mellitus |  |
| 10 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-II3 | Fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 11 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-II4 | Fam | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 12 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-II5 | Fam | F | N | Y | D | 40\+ | / | / | / | / | Diabetes mellitus |  |
| 13 | 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 |  |
| 14 | 14709 | m.14709T\>C | T14709C\-F2 | T14709C\-F2\-III2 | Fam | M | N | N | A | 57 | 65% | / | / | / | Healthy |  |
| 15 | 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 |  |
| 16 | 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. |  |
| 17 | 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 |  |
| 18 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-I1 | Uninf | F | N | Y | D | 60 | / | / | / | / | Diabetes mellitus, stroke\-like episodes |  |
| 19 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II1 | Fam | F | N | N | A | ND | 31% | / | / | / | Healthy |  |
| 20 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 21 | 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 |  |
| 22 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 23 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II5 | Fam | F | N | N | A | ND | 29% | / | / | / | Glucose intolerance, mild high\-frequency hearing defect |  |
| 24 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II6 | Fam | M | N | Y | A | 39 | / | / | / | / | Diabetes mellitus |  |
| 25 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II7 | Fam | M | N | Y | A | 39 | / | / | / | / | Diabetes mellitus |  |
| 26 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-II8 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 27 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-III1 | Fam | F | N | N | A | ND | 3% | / | / | / | Healthy |  |
| 28 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 29 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-III3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 30 | 14709 | m.14709T\>C | T14709C\-F3 | T14709C\-F3\-IV1 | Fam | F | N | N | A | ND | 24% | / | / | / | Healthy |  |
| 31 | 14709 | m.14709T\>C | T14709C\-F4 | T14709C\-F4\-I2 | Uninf | F | N | Y | A | 25 | \>95% | / | / | / | Mitochondrial myopathy, diabetes mellitus, peripheral neuropathy |  |
| 32 | 14709 | m.14709T\>C | T14709C\-F4 | T14709C\-F4\-II2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 33 | 14709 | m.14709T\>C | T14709C\-F4 | T14709C\-F4\-II1 | Fam | M | Y | Y | A | 20 | \>95% | / | / | / | Mitochondrial myopathy, diabetes mellitus, ataxia, learning problems |  |
| 34 | 14709 | m.14709T\>C | T14709C\-F5 | T14709C\-F5\-II2 | Fam | F | N | Y | A | 60 | \+ | / | / | / | Diabetes mellitus |  |
| 35 | 14709 | m.14709T\>C | T14709C\-F5 | T14709C\-F5\-III1 | Fam | M | Y | Y | A | 16 | \+ | / | / | / | Deafness |  |
| 36 | 14709 | m.14709T\>C | T14709C\-F5 | T14709C\-F5\-III2 | Fam | F | Y | Y | A | 12 | \+ | / | / | / | Deafness, myopathy |  |
| 37 | 14709 | m.14709T\>C | T14709C\-F5 | T14709C\-F5\-II3 | Fam | M | N | N | D | ND | 0 | / | / | / | Healthy |  |
| 38 | 14709 | m.14709T\>C | T14709C\-F5 | T14709C\-F5\-III4 | Fam | M | N | N | A | ND | 0 | / | / | / | Healthy |  |
| 39 | 14709 | m.14709T\>C | T14709C\-F5 | T14709C\-F5\-III5 | Fam | M | Y | Y | A | 10 | \+ | / | / | / | Diabetes mellitus, deafness |  |
| 40 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V1 | Fam | M | N | Y | D | 55 | / | 1 | / | 100% (Heart), 100% (Kidney), 100% (Liver), 94% (Spleen), 92% (Lung) | Proximal myopathy, oculi weakness, diabetes mellitus, ataxia and dysarthria, peripheral neuropathy, cerebral atrophy, peripheral vascular disease |  |
| 41 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V2 | Fam | F | N | Y | A | 60 | 90% | / | 92% | 81% (H) | Proximal myopathy, oculi weakness, left hemiparesis, nystagmus and ataxia |  |
| 42 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 43 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V4 | Fam | F | N | Y | D | 70 | / | / | / | / | Diabetes mellitus |  |
| 44 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V5 | Fam | M | Y | Y | D | ND | / | 87% | / | / | Proximal myopathy |  |
| 45 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-VI2 | Fam | F | N | Y | A | 34 | / | / | 93% | 85% (H) | Oculi weakness |  |
| 46 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-VI3 | Fam | F | N | N | A | 32 | 1 | / | / | / | Healthy |  |
| 47 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-VI4 | Fam | F | N | Y | D | 17 | / | 1 | / | / | Proximal myopathy, oculi weakness, diabetes mellitus, diabetic ketoacidosis, breathlessness |  |
| 48 | 14709 | m.14709T\>C | T14709C\-F7 | T14709C\-F7\-I2 | Uninf | F | N | Y | A | ND | 42% | / | 46% | / | Gestational diabetes |  |
| 49 | 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 |  |
| 50 | 14709 | m.14709T\>C | T14709C\-F7 | T14709C\-F7\-II2 | Fam | F | N | N | A | ND | 46% | / | 50% | / | Healthy |  |
| 51 | 14709 | m.14709T\>C | T14709C\-F8 | T14709C\-F8\-I2 | Uninf | F | N | Y | A | 84 | 55% | / | 65% | / | Diabetes mellitus |  |
| 52 | 14709 | m.14709T\>C | T14709C\-F8 | T14709C\-F8\-II1 | Fam | M | Y | Y | A | 55 | 50% | 97% | 80% | / | Myopathy, diabetes mellitus |  |
| 53 | 14709 | m.14709T\>C | T14709C\-F8 | T14709C\-F8\-II2 | Fam | F | N | Y | A | 51 | 35% | 70% | 60% | / | Gestational diabetes, exercise intolerance, decreased ankle jerks, reduced leg vibratory sensation, mixed myopathic neurogenic pattern, axonal motor\-predominant polyneuropathy |  |
| 54 | 14709 | m.14709T\>C | T14709C\-F8 | T14709C\-F8\-II3 | Fam | F | N | N | A | 47 | 1 | / | 1 | / | Healthy |  |
| 55 | 14709 | m.14709T\>C | T14709C\-F8 | T14709C\-F8\-III1 | Fam | M | N | N | A | 15 | 35% | / | 1 | / | Healthy |  |
| 56 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-I1 | Uninf | F | N | Y | D | ND | / | / | / | / | Diabetes mellitus |  |
| 57 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II1 | Fam | F | Y | Y | A | 27 | 57\.3% | / | / | 77% (BM) | Diabetes mellitus |  |
| 58 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II3 | Fam | F | N | Y | A | 28 | 57\.7% | / | / | 86\.7% (BM) | Diabetes mellitus, retinitis pigmentosa |  |
| 59 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II4 | Fam | M | N | N | A | ND | 57% | / | / | 81\.7% (BM) | Healthy |  |
| 60 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II5 | Fam | M | N | N | A | ND | 57\.7% | / | / | 82\.8% (BM) | Healthy |  |
| 61 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II6 | Fam | F | N | Y | A | 35 | 59% | / | / | 82\.6% (BM) | Diabetes mellitus |  |
| 62 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II8 | Fam | F | N | N | A | ND | 59\.2% | / | / | 87\.7% (BM) | Healthy |  |
| 63 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III1 | Fam | F | N | N | A | ND | 57\.3% | / | / | 86\.3% (BM) | Healthy |  |
| 64 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III2 | Fam | F | N | N | A | ND | / | / | / | 82\.6% (BM) | Healthy |  |
| 65 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III3 | Fam | M | N | N | A | 14 | / | / | / | 81\.1% (BM) | Healthy |  |
| 66 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III4 | Fam | F | N | Y | A | ND | 57\.3% | / | / | 81\.1% (BM) | Diabetes mellitus |  |
| 67 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III5 | Fam | M | N | N | A | ND | 58\.3% | / | / | 81\.1% (BM) | Healthy |  |
| 68 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III6 | Fam | F | N | N | A | ND | 58% | / | / | 81\.4% (BM) | Healthy |  |
| 69 | 14709 | m.14709T\>C | T14709C\-F10 | T14709C\-F10\-III4 | Fam | F | Y | Y | A | 50 | 80\.7% | / | / | / | Diabetes mellitus, high blood pressure |  |
| 70 | 14709 | m.14709T\>C | T14709C\-F10 | T14709C\-F10\-IV1 | Fam | F | N | N | A | ND | 49\.7% | / | / | / | Healthy |  |
| 71 | 14709 | m.14709T\>C | T14709C\-F10 | T14709C\-F10\-IV2 | Fam | F | N | N | A | ND | 24\.46% | / | / | / | Healthy |  |
| 72 | 14709 | m.14709T\>C | T14709C\-F10 | T14709C\-F10\-IV3 | Fam | M | N | N | A | ND | 0 | / | / | / | Healthy |  |
| 73 | 14709 | m.14709T\>C | T14709C\-F10 | T14709C\-F10\-IV4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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