T4409C

# General Information

| **Position** | **4409** | **Variant** | **m.4409T\>C** | **Locus** | **MT\-TM** | **RNA** | **tRNA Met** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 46\.50% | **Pathogenicity** | Reported \[VUS] |

"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.4409T\>C** variant in MT\-TM has been reported in 5 pedigrees. To date, 5 carriers have been reported. Reported mutation loads ranged from 0% to 93%, with a median of 4% overall; affected carriers showed mutation loads from 0% to 93%, with a median of 77%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, the mutation was undetectable in hair (0%) but in muscle (77%). The main clinical manifestations among affected carriers included exercise intolerance, CPEO, growth retardation, abdominal pain, and vomiting after exercise, diffuse muscular atrophy and weakness and Growth retardation, headaches, hearing impairment, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4409 | m.4409T\>C | T4409C\-F1 | Denmark | CPEO, SS, EI | ND | ND | 2013 | [23838278](https://pubmed.ncbi.nlm.nih.gov/23838278/) |  |
| 2 | 4409 | m.4409T\>C | T4409C\-F2 | Denmark | CPEO, EI, GR, HI | ND | ND | 2013 | [23376095](https://pubmed.ncbi.nlm.nih.gov/23376095/) |  |
| 3 | 4409 | m.4409T\>C | T4409C\-F3 | Denmark | Mitochondrial Myopathy | ND | ND | 2010 | [19941338](https://pubmed.ncbi.nlm.nih.gov/19941338/) |  |
| 4 | 4409 | m.4409T\>C | T4409C\-F4 | Denmark | Growth retardation, EI | ND | ND | 2003 | [14648149](https://pubmed.ncbi.nlm.nih.gov/14648149/) |  |
| 5 | 4409 | m.4409T\>C | T4409C\-F5 | Danmark | Mitochondrial,Myopathy | 4 | 0 | 1998 | [9633749](https://pubmed.ncbi.nlm.nih.gov/9633749/) |  |

# 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 | 4409 | m.4409T\>C | T4409C\-F1 | T4409C\-F1\-P1 | Uninf | F | Y | Y | A | 40 | / | 91% | / | / | CPEO, short stature, exercise intolerance |  |
| 2 | 4409 | m.4409T\>C | T4409C\-F2 | T4409C\-F2\-P1 | Uninf | F | Y | Y | A | 40 | / | 93% | / | / | CPEO, exercise intolerance, growth retardation, hearing impairment |  |
| 3 | 4409 | m.4409T\>C | T4409C\-F3 | T4409C\-F3\-P1 | Uninf | ND | ND | ND | A | ND | / | 91% | / | / | Healthy |  |
| 4 | 4409 | m.4409T\>C | T4409C\-F4 | T4409C\-F4\-P1 | Uninf | F | Y | Y | A | 34 | / | 91% | / | / | Growth retardation, exercise intolerance |  |
| 5 | 4409 | m.4409T\>C | T4409C\-F5 | T4409C\-F5\-Ⅱ\-1 | De novo | F | Y | Y | A | 30 | 8% | 77% | / | 0%(H) | diffuse muscular atrophy and weakness and Growth retardation;shortness of breath, abdominal pain, headaches, and vomiting after exercise |  |

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