A4435G-F1

**Figure 1\. Pedigree diagram for family A4435G\-F1\.**

![](/media/202606/20260622155010192166.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4435 | m.4435A\>G | A4435G\-F1 | China | LHON | 6 | 7 | 2006 | [16431939](https://pubmed.ncbi.nlm.nih.gov/16431939/) | Carrying G11778A |

The **m.4435A\>G** variant in MT\-TM was reported in family A4435G\-F1 from China with lhon. The pedigree record reported 6 unaffected and 7 affected maternal relatives, and the carrier table includes 14 listed carriers. Homoplasmy was reported in 13/14 listed carriers; 8/14 carriers were affected, and the main clinical manifestation among affected carriers was being the rapid, painless, bilateral loss of central vision, progressive deterioration of bilateral 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 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy | Carrying G11778A |
| 2 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-II2 | Fam | F | N | N | A | 46 | Homo | / | / | / | Healthy | Carrying G11778A |
| 3 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-II4 | Fam | F | N | Y | A | 51 | Homo | / | / | / | being the rapid, painless,bilateral loss of central vision | Carrying G11778A |
| 4 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-II5 | Fam | M | N | Y | A | 22 | Homo | / | / | / | being the rapid, painless,bilateral loss of central vision | Carrying G11778A |
| 5 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-II6 | Fam | M | N | Y | A | 48 | Homo | / | / | / | being the rapid, painless,bilateral loss of central vision | Carrying G11778A |
| 6 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-II8 | Fam | M | N | Y | A | 41 | Homo | / | / | / | being the rapid, painless,bilateral loss of central vision | Carrying G11778A |
| 7 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-II10 | Fam | M | N | Y | A | 38 | Homo | / | / | / | being the rapid, painless,bilateral loss of central vision | Carrying G11778A |
| 8 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-II13 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy | Carrying G11778A |
| 9 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-III1 | Fam | F | N | N | A | 21 | Homo | / | / | / | Healthy | Carrying G11778A |
| 10 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-III2 | Fam | M | Y | Y | A | 18 | Homo | / | / | / | painless, progressive deterioration of bilateral visual impairment | Carrying G11778A |
| 11 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-III3 | Fam | F | N | Y | A | 23 | Homo | / | / | / | being the rapid, painless,bilateral loss of central vision | Carrying G11778A |
| 12 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-III4 | Fam | M | N | Y | A | 19 | Homo | / | / | / | being the rapid, painless,bilateral loss of central vision | Carrying G11778A |
| 13 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-III9 | Fam | F | N | N | A | 11 | Homo | / | / | / | Healthy | Carrying G11778A |
| 14 | 4435 | m.4435A\>G | A4435G\-F1 | A4435G\-F1\-III10 | Fam | M | N | N | A | 7 | Homo | / | / | / | Healthy | Carrying G11778A |

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