A1555G-F123

**Figure 1\. Pedigree diagram for family A1555G\-F123\.**

![](/media/202607/A1555G-F123-pedigree_20260701021045162482.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\-F123 | Japan | Aminoglycoside\-induced and nonsyndromic sensorineural hearing loss | 1 | 0 | 1997 | [9111378](https://pubmed.ncbi.nlm.nih.gov/9111378/) | Family 3 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F123 from Japan with aminoglycoside\-induced and nonsyndromic sensorineural hearing loss. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was progressive hearing loss after one aminoglycoside injection at age 3\.

# 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\-F123 | A1555G\-F123\-III7 | Fam | F | ND | N | A | ND | Homo | / | / | / | Healthy | Original carrier ID: Family\-3\-III\-7 |
| 2 | 1555 | m.1555A\>G | A1555G\-F123 | A1555G\-F123\-IV2 | Fam | F | ND | Y | A | ND | Homo | / | / | / | Progressive hearing loss after one aminoglycoside injection at age 3 | Original carrier ID: Family\-3\-IV\-2 |

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