A1555G-F21

**Figure 1\. Pedigree diagram for family A1555G\-F21\.**

![](/media/202607/A1555G-F21-pedigree_20260701021653576293.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\-F21 | China | Aminoglycoside\-induced and nonsyndromic hearing impairment | 9 | 9 | 2007 | [17723226](https://pubmed.ncbi.nlm.nih.gov/17723226/) | Family WZD11; with G11696A |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F21 from China with aminoglycoside\-induced and nonsyndromic hearing impairment. The pedigree record reported 9 unaffected and 9 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in all listed carriers; 10/11 carriers were affected, and the main clinical manifestation among affected carriers was moderate bilateral sensorineural hearing impairment, severe hearing loss, moderate hearing loss, mild hearing loss, moderate 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\-F21 | A1555G\-F21\-IV1 | Fam | F | Y | Y | A | 17 | Homo | / | / | / | Moderate bilateral sensorineural hearing impairment | Original carrier ID: WZD11\-IV1; Carrying G11696A |
| 2 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-IV2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Severe hearing loss | sister of proband; aminoglycoside: Yes; gentamicin at age 1 |
| 3 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-II6 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Severe hearing loss | aminoglycoside: No reported exposure |
| 4 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-II9 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Severe hearing loss | aminoglycoside: No reported exposure |
| 5 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-III14 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Severe hearing loss | aminoglycoside: No reported exposure |
| 6 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-III15 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Severe hearing loss | aminoglycoside: No reported exposure |
| 7 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-III10 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Moderate hearing loss | explicitly tested affected female; aminoglycoside: No reported exposure |
| 8 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-III17 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Moderate hearing loss | aminoglycoside: No reported exposure |
| 9 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-III11 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Mild hearing loss | aminoglycoside: No reported exposure |
| 10 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-III7 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | explicitly tested; aminoglycoside: No reported exposure |
| 11 | 1555 | m.1555A\>G | A1555G\-F21 | A1555G\-F21\-III6 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Moderate hearing impairment | Carrying G11696A; sloping\-shaped audiometric pattern; no aminoglycoside exposure reported |

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