A1555G-F125

**Figure 1\. Pedigree diagram for family A1555G\-F125\.**

![](/media/202607/A1555G-F125-pedigree_20260701021102402744.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 | 1555 | m.1555A\>G | A1555G\-F125 | Japan | Aminoglycoside\-induced and nonsyndromic sensorineural hearing loss | 6 | 11 | 1997 | [9111378](https://pubmed.ncbi.nlm.nih.gov/9111378/) | Family 1 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F125 from Japan with aminoglycoside\-induced and nonsyndromic sensorineural hearing loss. The pedigree record reported 6 unaffected and 11 affected maternal relatives, and the carrier table includes 18 listed carriers. Homoplasmy was reported in all listed carriers; 12/18 carriers were affected, and the main clinical manifestation among affected carriers was hearing loss., hearing loss, loud\-sound exposure history..

# 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 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-IV4 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Hearing loss. | Original carrier ID: Family\-1\-IV\-4 |
| 2 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-IV5 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Hearing loss. | Original carrier ID: Family\-1\-IV\-5 |
| 3 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-IV11 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Hearing loss | Original carrier ID: Family\-1\-IV\-11; aminoglycoside injection |
| 4 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-IV13 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Hearing loss. | Original carrier ID: Family\-1\-IV\-13 |
| 5 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-V4 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Hearing loss | Original carrier ID: Family\-1\-V\-4; aminoglycoside injection |
| 6 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-V6 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Hearing loss; loud\-sound exposure history. | Original carrier ID: Family\-1\-V\-6 |
| 7 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-V8 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Hearing loss. | Original carrier ID: Family\-1\-V\-8 |
| 8 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-V11 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Hearing loss. | Original carrier ID: Family\-1\-V\-11 |
| 9 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-V13 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Hearing loss. | Original carrier ID: Family\-1\-V\-13 |
| 10 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-V15 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Original carrier ID: Family\-1\-V\-15 |
| 11 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-V19 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Hearing loss. | Original carrier ID: Family\-1\-V\-19 |
| 12 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-V23 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Hearing loss. | Original carrier ID: Family\-1\-V\-23 |
| 13 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-VI9 | Fam | M | ND | Y | A | ND | Homo | / | / | / | Hearing loss | Original carrier ID: Family\-1\-VI\-9; aminoglycoside injection |
| 14 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-VI11 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Original carrier ID: Family\-1\-VI\-11 |
| 15 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-VI12 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Original carrier ID: Family\-1\-VI\-12 |
| 16 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-VI13 | Fam | M | ND | N | A | ND | Homo | / | / | / | Healthy | Original carrier ID: Family\-1\-VI\-13 |
| 17 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-VI18 | Fam | M | ND | N | A | ND | Homo | / | / | / | Healthy | Original carrier ID: Family\-1\-VI\-18 |
| 18 | 1555 | m.1555A\>G | A1555G\-F125 | A1555G\-F125\-VI19 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Original carrier ID: Family\-1\-VI\-19 |

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