A1555G-F183

**Figure 1\. Pedigree diagram for family A1555G\-F183\.**

![](/media/202607/A1555G-F183-pedigree_20260701021145356876.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\-F183 | Japan | Maternally inherited hearing loss with A1555G | 10 | 3 | 2002 | [12031626](https://pubmed.ncbi.nlm.nih.gov/12031626/) | Family 3 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F183 from Japan with maternally inherited hearing loss with a1555g. The pedigree record reported 10 unaffected and 3 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was tinnitus, hearing loss.

# 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\-F183 | A1555G\-F183\-III2 | Fam | F | Y | Y | ND | 19 | / | / | / | / | Tinnitus/hearing loss | after streptomycin exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F183 | A1555G\-F183\-II1 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | pedigree |
| 3 | 1555 | m.1555A\>G | A1555G\-F183 | A1555G\-F183\-III1 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | pedigree |

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