A1555G-F82

**Figure 1\. Pedigree diagram for family A1555G\-F82\.**

![](/media/202607/A1555G-F82-pedigree_20260701022457941831.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\-F82 | Germany | nonsyndromic hearing impairment | 1 | 3 | 2002 | [11857751](https://pubmed.ncbi.nlm.nih.gov/11857751/) | Family 11857751 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F82 from Germany with nonsyndromic hearing impairment. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 4/5 carriers were affected, and the main clinical manifestation among affected carriers was mild high\-frequency hearing impairment, mild to moderate high\-frequency hearing impairment, moderate bilateral 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 | 1555 | m.1555A\>G | A1555G\-F82 | A1555G\-F82\-I1 | Uninf | F | N | Y | ND | ND | Homo | / | / | / | Mild high\-frequency hearing impairment | No aminoglycoside exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F82 | A1555G\-F82\-II2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Mild to moderate high\-frequency hearing impairment | No aminoglycoside exposure |
| 3 | 1555 | m.1555A\>G | A1555G\-F82 | A1555G\-F82\-II3 | Fam | F | Y | Y | ND | ND | Homo | / | / | / | Moderate bilateral hearing impairment | No aminoglycoside exposure |
| 4 | 1555 | m.1555A\>G | A1555G\-F82 | A1555G\-F82\-II4 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | No aminoglycoside exposure |
| 5 | 1555 | m.1555A\>G | A1555G\-F82 | A1555G\-F82\-II1 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Mild high\-frequency hearing impairment |  |

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