T11232C

# **General Information**

| **Position** | **11232** | **Variant** | **m.11232T\>C** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **L158P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.11232T\>C** variant in MT\-ND4 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 60\.4%, with a median of 27\.9% overall; affected carriers showed mutation loads from 0% to 60\.4%, with a median of 27\.9%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (39\.6%) and cox\-negative fibers (60\.4%). The main clinical manifestations among affected carriers included CPEO, bilateral ptosis, diabetes mellitus, facial weakness, and ophthalmoplegia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11232 | m.11232T\>C | T11232C\-F1 | United Kingdom | CPEO | ND | ND | 2003 | [14581685](https://pubmed.ncbi.nlm.nih.gov/14581685/) |  |

# **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 | 11232 | m.11232T\>C | T11232C\-F1 | T11232C\-F1\-P1 | Uninf | M | Y | Y | ND | 48 | 0% | 39\.6% | / | 60\.4%(COX\-negative fibers); 16\.2%(COX\-positive fibers) | CPEO; bilateral ptosis; ophthalmoplegia; facial weakness; diabetes mellitus | Original carrier identifier: Patient 2 |

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