A4917G-F1

**Figure 1\. Pedigree diagram for family A4917G\-F1\.**

![](/media/202607/A4917G-F1-pedigree_20260701020651834563.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4917 | m.4917A\>G | A4917G\-F1 | Belgium | LHON | 6 | 1 | 1994 | [7977345](https://pubmed.ncbi.nlm.nih.gov/7977345/) | Carring T4216C |

The **m.4917A\>G** variant in MT\-ND2 was reported in family A4917G\-F1 from Belgium with lhon. The pedigree record reported 6 unaffected and 1 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in all listed carriers; 2/8 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 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | Carring T4216C |
| 2 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II2 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 3 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 4 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 5 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II5 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 6 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 7 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 8 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II8 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | Carring T4216C |

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