C11240T

# **General Information**

| **Position** | **11240** | **Variant** | **m.11240C\>T** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **L161F** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | VUS\+ | **Pathogenicity** | Reported |

"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.11240C\>T** variant in MT\-ND4 has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0% to 88\.5%, with a median of 25\.9% overall; affected carriers showed mutation loads from 66\.8% to 88\.5%, with a median of 76\.1%; unaffected carriers showed mutation loads from 0% to 28\.1%, with a median of 11%. The main clinical manifestations among affected carriers included leigh syndrome, developmental delay, muscle weakness, and psychomotor retardation.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11240 | m.11240C\>T | [C11240T\-F1](https://mitofam.com/doc/1875/) | China | Leigh syndrome | 3 | 0 | 2017 | [27761019](https://pubmed.ncbi.nlm.nih.gov/27761019/) |  |

# **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 | 11240 | m.11240C\>T | C11240T\-F1 | C11240T\-F1\-I1 | Uninf | F | N | N | A | ND | 0% PCR\-RFLP; 5\.25% qPCR | / | 0% | / | Healthy |  |
| 2 | 11240 | m.11240C\>T | C11240T\-F1 | C11240T\-F1\-II1 | Fam | F | N | N | A | ND | 0% PCR\-RFLP; 16\.79% qPCR | / | 0% | / | Healthy |  |
| 3 | 11240 | m.11240C\>T | C11240T\-F1 | C11240T\-F1\-II2 | Fam | F | N | N | A | ND | 21\.16% PCR\-RFLP; 24\.64% qPCR | / | 27\.08% | 28\.15%(BM) | Healthy |  |
| 4 | 11240 | m.11240C\>T | C11240T\-F1 | C11240T\-F1\-III1 | Fam | M | Y | Y | A | 4 | 80\.34% PCR\-RFLP; 88\.47% qPCR | / | 73\.63% | 71\.21%(BM); 66\.77% PCR\-RFLP(F); 78\.57% qPCR(F) | Leigh syndrome; developmental delay; muscle weakness; psychomotor retardation |  |

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