C4171A

# General Information

| **Position** | **4171** | **Variant** | **m.4171C\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **L289M** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Cfrm \[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.4171C\>A** variant in MT\-ND1 has been reported in 3 pedigrees. To date, 22 carriers have been reported. Homoplasmy was reported in 8/22 carriers (36\.4%), and 17/22 carriers (77\.3%) were affected. The main clinical manifestations among affected carriers included LHON, mild, moderate, moderate visual impairment, mild visual impairment, normal visual impairment, profound, and severe visual impairment.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4171 | m.4171C\>A | [C4171A\-F1](https://mitofam.com/doc/1404/) | Korea | LHON | 9 | 3 | 2002 | [12112111](https://pubmed.ncbi.nlm.nih.gov/12112111/) |  |
| 2 | 4171 | m.4171C\>A | [C4171A\-F2](https://mitofam.com/doc/1405/) | China | LHON | 1 | 2 | 2015 | [24884847](https://pubmed.ncbi.nlm.nih.gov/24884847/) |  |
| 3 | 4171 | m.4171C\>A | [C4171A\-F3](https://mitofam.com/doc/1406/) | China | LHON | 4 | 10 | 2009 | [19555656](https://pubmed.ncbi.nlm.nih.gov/19555656/) | LHON\-008; carrying A14841G(heteroplasmic) and A15095G. |

# 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 | 4171 | m.4171C\>A | C4171A\-F1 | C4171A\-F1\-II2 | Fam | F | N | Y | A | 67 | Homo | Homo | Homo | / | LHON |  |
| 2 | 4171 | m.4171C\>A | C4171A\-F1 | C4171A\-F1\-III1 | Fam | M | N | Y | A | 46 | Homo | Homo | Homo | / | LHON |  |
| 3 | 4171 | m.4171C\>A | C4171A\-F1 | C4171A\-F1\-IV3 | Fam | M | Y | Y | A | 17 | Homo | Homo | Homo | / | LHON |  |
| 4 | 4171 | m.4171C\>A | C4171A\-F2 | C4171A\-F2\-III2 | Fam | F | N | Y | A | 17 | Homo | / | Homo | / | LHON |  |
| 5 | 4171 | m.4171C\>A | C4171A\-F2 | C4171A\-F2\-IV2 | Fam | F | N | N | A | ND | Homo | / | Homo | / | Healthy |  |
| 6 | 4171 | m.4171C\>A | C4171A\-F2 | C4171A\-F2\-IV6 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 7 | 4171 | m.4171C\>A | C4171A\-F2 | C4171A\-F2\-IV7 | Fam | M | Y | Y | A | 12 | Homo | / | Homo | / | LHON |  |
| 8 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | LHON | Affected in Fig.1; individual age/load not reported. |
| 9 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-II1 | Fam | F | N | Y | D | ND | / | / | / | / | LHON | Affected in Fig.1; individual age/load not reported. |
| 10 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-II2 | Fam | F | N | Y | D | ND | / | / | / | / | LHON | Affected in Fig.1; individual age/load not reported. |
| 11 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-III1 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Unaffected maternal\-line member in Fig.1\. |
| 12 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-III2 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Unaffected maternal\-line member in Fig.1\. |
| 13 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-III3 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Affected in Fig.1; individual age/load not reported. |
| 14 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-III4 | Fam | F | N | Y | D | ND | / | / | / | / | LHON | Affected in Fig.1; individual age/load not reported. |
| 15 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-III5 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Affected in Fig.1; individual age/load not reported. |
| 16 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-IV1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Normal participant; age not reported in Table 1\. |
| 17 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-IV2 | Fam | F | N | Y | A | 50 | Homo | / | / | / | LHON; profound/moderate visual impairment | Age at test 50; onset 18; mother of proband sequenced. |
| 18 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-IV3 | Fam | F | N | Y | A | 46 | / | / | / | / | LHON; mild/severe visual impairment | Age at test 46; onset 32\. |
| 19 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-IV4 | Fam | M | N | Y | A | 39 | / | / | / | / | LHON; moderate/mild visual impairment | Age at test 39; onset 22\. |
| 20 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-V4 | Fam | M | Y | Y | A | 26 | Homo | / | / | / | LHON; mild/moderate visual impairment | Proband; age at test 26; onset 26\. |
| 21 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-V5 | Fam | M | N | N | A | 23 | / | / | / | / | Healthy | Normal in Table 1\. |
| 22 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-V6 | Fam | M | N | Y | A | 14 | / | / | / | / | LHON; moderate/normal visual impairment | Age at test 14; onset 10\. |

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