A10543G

# **General Information**

| **Position** | **10543** | **Variant** | **m.10543A\>G** | **Locus** | **MT\-ND4L** | **Amino\-AcidChange** | **H25R** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.10543A\>G** variant in MT\-ND4L has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 70%, with a median of 70% overall; affected carriers showed mutation loads from 70%, with a median of 70%. The main clinical manifestations among affected carriers included lHON\-like optic neuropathy, central scotoma OU, and small central scotoma OU.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10543 | m.10543A\>G | A10543G\-F1 | Saudi Arabia | LHON\-like optic neuropathy | ND | ND | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) |  |
| 2 | 10543 | m.10543A\>G | A10543G\-F2 | Saudi Arabia | LHON\-like optic neuropathy | ND | ND | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) |  |

# **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 | 10543 | m.10543A\>G | A10543G\-F1 | A10543G\-F1\-P1 | Uninf | M | Y | Y | A | 41 | 70% | / | / | / | LHON\-like optic neuropathy; central scotoma OU |  |
| 2 | 10543 | m.10543A\>G | A10543G\-F2 | A10543G\-F2\-P1 | Uninf | M | Y | Y | A | 7 | 70% | / | / | / | LHON\-like optic neuropathy; small central scotoma OU |  |

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