A1555G-F181

**Figure 1\. Pedigree diagram for family A1555G\-F181\.**

![](/media/202607/A1555G-F181-pedigree_20260701021128217880.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\-F181 | Japan | Maternally inherited hearing loss with A1555G | 3 | 6 | 2002 | [12031626](https://pubmed.ncbi.nlm.nih.gov/12031626/) | Family 1 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F181 from Japan with maternally inherited hearing loss with a1555g. The pedigree record reported 3 unaffected and 6 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in 0/9 listed carriers; 6/9 carriers were affected, and the main clinical manifestation among affected carriers was deafness, bilateral deafness.

# 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\-F181 | A1555G\-F181\-III5 | Fam | M | Y | Y | ND | 44 | / | / | / | / | Deafness | after streptomycin at age 17 |
| 2 | 1555 | m.1555A\>G | A1555G\-F181 | A1555G\-F181\-II2 | Fam | F | N | Y | ND | ND | / | / | / | / | Deafness | Streptomycin\-induced; onset age 30 |
| 3 | 1555 | m.1555A\>G | A1555G\-F181 | A1555G\-F181\-II3 | Fam | F | N | Y | ND | 69 | / | / | / | / | Bilateral deafness | without aminoglycoside history; onset age 60; muscle biopsy showed mitochondrial abnormalities |
| 4 | 1555 | m.1555A\>G | A1555G\-F181 | A1555G\-F181\-III1 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | pedigree |
| 5 | 1555 | m.1555A\>G | A1555G\-F181 | A1555G\-F181\-III3 | Fam | F | N | Y | ND | ND | / | / | / | / | Bilateral deafness | without aminoglycoside history; onset age 45 |
| 6 | 1555 | m.1555A\>G | A1555G\-F181 | A1555G\-F181\-III7 | Fam | M | N | Y | ND | ND | / | / | / | / | Bilateral deafness | without aminoglycoside history; onset age 13 |
| 7 | 1555 | m.1555A\>G | A1555G\-F181 | A1555G\-F181\-IV3 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | pedigree |
| 8 | 1555 | m.1555A\>G | A1555G\-F181 | A1555G\-F181\-IV4 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | pedigree |
| 9 | 1555 | m.1555A\>G | A1555G\-F181 | A1555G\-F181\-IV5 | Fam | F | N | Y | ND | ND | / | / | / | / | Bilateral deafness | without aminoglycoside history; onset age 18 |

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