A4317G-F5

**Figure 1\. Pedigree diagram for family A4317G\-F5\.**

![](/media/202607/A4317G-F5-pedigree_20260701023209583334.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\-F5 | China | Hearing impairment | 4 | 16 | 2013 | [23774020](https://pubmed.ncbi.nlm.nih.gov/23774020/) | Carrying A1555G |

The **m.4317A\>G** variant in MT\-TI was reported in family A4317G\-F5 from China with hearing impairment. The pedigree record reported 4 unaffected and 16 affected maternal relatives, and the carrier table includes 21 listed carriers. Homoplasmy was reported in all listed carriers; 17/21 carriers were affected, and the main clinical manifestation among affected carriers was severe hearing impairment, moderate hearing impairment, profound bilateral hearing loss, gentamicin exposure, extreme hearing impairment, mild 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\-F5 | A4317G\-F5\-I2 | Uninf | F | N | Y | A | 74 | Homo | / | / | / | Severe hearing impairment | Carrying A1555G |
| 2 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-II2 | Fam | F | N | Y | A | 44 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 3 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-II3 | Fam | M | N | Y | A | 47 | Homo | / | / | / | Severe hearing impairment | Carrying A1555G |
| 4 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-II6 | Fam | F | N | Y | A | 55 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 5 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-II8 | Fam | F | N | Y | A | 52 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 6 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III1 | Fam | M | N | Y | A | 24 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 7 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III3 | Fam | M | Y | Y | A | 22 | Homo | / | / | / | Profound bilateral hearing loss, gentamicin exposure | Carrying A1555G |
| 8 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III7 | Fam | M | N | Y | A | 34 | Homo | / | / | / | Severe hearing impairment | Carrying A1555G |
| 9 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III9 | Fam | M | N | Y | A | 32 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 10 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III12 | Fam | F | N | Y | A | 29 | Homo | / | / | / | Moderate hearing impairment | Carrying A1555G |
| 11 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III13 | Fam | M | N | Y | A | 15 | Homo | / | / | / | Extreme hearing impairment | Carrying A1555G |
| 12 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III15 | Fam | F | N | Y | A | 30 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 13 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III16 | Fam | F | N | Y | A | 27 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 14 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III17 | Fam | F | N | Y | A | 23 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 15 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III18 | Fam | F | N | Y | A | 19 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 16 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-III19 | Fam | F | N | N | D | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 17 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 18 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV6 | Fam | F | N | Y | A | 10 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 19 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV7 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 20 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV8 | Fam | F | N | Y | A | 9 | Homo | / | / | / | Mild hearing impairment | Carrying A1555G |
| 21 | 4317 | m.4317A\>G | A4317G\-F5 | A4317G\-F5\-IV9 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |

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