C4171A-F3

**Figure 1\. Pedigree diagram for family C4171A\-F3\.**

![](/media/202606/20260630031736989517.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4171 | m.4171C\>A | C4171A\-F3 | China | LHON | 4 | 10 | 2009 | [19555656](https://pubmed.ncbi.nlm.nih.gov/19555656/) | LHON\-008; carrying A14841G(heteroplasmic) and A15095G. |

The **m.4171C\>A** variant in MT\-ND1 was reported in family C4171A\-F3 from China with lhon. The pedigree record reported 4 unaffected and 10 affected maternal relatives, and the carrier table includes 15 listed carriers. Homoplasmy was reported in 2/15 listed carriers; 11/15 carriers were affected, and the main clinical manifestation among affected carriers was lhon, profound, moderate visual impairment, mild, severe visual impairment, moderate, mild visual impairment, normal visual impairment.

# 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\-F3 | C4171A\-F3\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | LHON | Affected in Fig.1; individual age/load not reported. |
| 2 | 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. |
| 3 | 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. |
| 4 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-III1 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Unaffected maternal\-line member in Fig.1\. |
| 5 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-III2 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Unaffected maternal\-line member in Fig.1\. |
| 6 | 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. |
| 7 | 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. |
| 8 | 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. |
| 9 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-IV1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Normal participant; age not reported in Table 1\. |
| 10 | 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. |
| 11 | 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\. |
| 12 | 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\. |
| 13 | 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\. |
| 14 | 4171 | m.4171C\>A | C4171A\-F3 | C4171A\-F3\-V5 | Fam | M | N | N | A | 23 | / | / | / | / | Healthy | Normal in Table 1\. |
| 15 | 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\. |

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