A1555G-F23

**Figure 1\. Pedigree diagram for family A1555G\-F23\.**

![](/media/202607/A1555G-F23-pedigree_20260701021826626640.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\-F23 | China | Aminoglycoside\-induced and nonsyndromic hearing impairment | 8 | 4 | 2008 | [18386806](https://pubmed.ncbi.nlm.nih.gov/18386806/) | Family WZD9 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F23 from China with aminoglycoside\-induced and nonsyndromic hearing impairment. The pedigree record reported 8 unaffected and 4 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in all listed carriers; 5/12 carriers were affected, and the main clinical manifestation among affected carriers was profound bilateral hearing impairment, pta about 97, 100 db, hearing impairment without reported, profound hearing impairment without reported, severe hearing impairment without reported.

# 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\-F23 | A1555G\-F23\-IV1 | Fam | M | Y | Y | A | 22 | Homo | / | / | / | Profound bilateral hearing impairment; PTA about 97/100 dB | Original carrier ID: WZD9\-IV\-1; aminoglycoside exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Hearing impairment without reported | Original carrier ID: WZD9\-II\-2; aminoglycoside exposure |
| 3 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-III7 | Fam | F | N | Y | A | ND | Homo | / | / | / | Profound hearing impairment without reported | Original carrier ID: WZD9\-III\-7; aminoglycoside exposure |
| 4 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-III2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Severe hearing impairment without reported | Original carrier ID: WZD9\-III\-2; aminoglycoside exposure |
| 5 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-III4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Severe hearing impairment without reported | Original carrier ID: WZD9\-III\-4; aminoglycoside exposure |
| 6 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-II4 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD9\-II\-4 |
| 7 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-III5 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD9\-III\-5 |
| 8 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-III6 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD9\-III\-6 |
| 9 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-III8 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD9\-III\-8 |
| 10 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-IV2 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD9\-IV\-2 |
| 11 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-IV3 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD9\-IV\-3 |
| 12 | 1555 | m.1555A\>G | A1555G\-F23 | A1555G\-F23\-IV4 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: WZD9\-IV\-4 |

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