A4317G-F3

**Figure 1\. Pedigree diagram for family A4317G\-F3\.**

![](/media/202607/A4317G-F3-pedigree_20260701023152207287.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 | 4317 | m.4317A\>G | A4317G\-F3 | China | Hearing impairment | 3 | 6 | 2018 | [30272361](https://pubmed.ncbi.nlm.nih.gov/30272361/) | Carrying A1555G |

The **m.4317A\>G** variant in MT\-TI was reported in family A4317G\-F3 from China with hearing impairment. The pedigree record reported 3 unaffected and 6 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in all listed carriers; 7/10 carriers were affected, and the main clinical manifestation among affected carriers was hearing 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 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-I2 | Uninf | F | N | Y | D | ND | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 2 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 3 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II3 | Fam | M | N | Y | A | 55 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 4 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 5 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II8 | Fam | F | N | Y | A | 63 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 6 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-II10 | Fam | F | N | Y | A | 60 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 7 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-III7 | Fam | M | N | Y | A | 35 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 8 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-III8 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 9 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-III10 | Fam | F | N | Y | A | 30 | Homo | / | / | / | Hearing impairment | Carrying A1555G |
| 10 | 4317 | m.4317A\>G | A4317G\-F3 | A4317G\-F3\-III12 | Fam | F | Y | Y | A | 28 | Homo | / | / | / | Hearing impairment | Carrying A1555G |

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