C4171A-F2

**Figure 1\. Pedigree diagram for family C4171A\-F2\.**

![](/media/202606/20260630031711830231.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\-F2 | China | LHON | 1 | 2 | 2015 | [24884847](https://pubmed.ncbi.nlm.nih.gov/24884847/) |  |

The **m.4171C\>A** variant in MT\-ND1 was reported in family C4171A\-F2 from China with lhon. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 3/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon.

# 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\-F2 | C4171A\-F2\-III2 | Fam | F | N | Y | A | 17 | Homo | / | Homo | / | LHON |  |
| 2 | 4171 | m.4171C\>A | C4171A\-F2 | C4171A\-F2\-IV2 | Fam | F | N | N | A | ND | Homo | / | Homo | / | Healthy |  |
| 3 | 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. |
| 4 | 4171 | m.4171C\>A | C4171A\-F2 | C4171A\-F2\-IV7 | Fam | M | Y | Y | A | 12 | Homo | / | Homo | / | LHON |  |

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