A1555G-F12

**Figure 1\. Pedigree diagram for family A1555G\-F12\.**

![](/media/202607/A1555G-F12-pedigree_20260701021010722844.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\-F12 | China | Aminoglycoside\-induced and nonsyndromic hearing loss | 3 | 5 | 2006 | [16955413](https://pubmed.ncbi.nlm.nih.gov/16955413/) | Family BJ109 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F12 from China with aminoglycoside\-induced and nonsyndromic hearing loss. The pedigree record reported 3 unaffected and 5 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in all listed carriers; 5/6 carriers were affected, and the main clinical manifestation among affected carriers was profound hearing loss, severe hearing loss, moderate 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\-F12 | A1555G\-F12\-III7 | Fam | F | Y | Y | A | 21 | Homo | / | / | / | Profound hearing loss | Original carrier ID: BJ109\-III7; after gentamycin exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F12 | A1555G\-F12\-III1 | Fam | ND | ND | Y | ND | ND | Homo | / | / | / | Profound hearing loss | aminoglycoside: Yes |
| 3 | 1555 | m.1555A\>G | A1555G\-F12 | A1555G\-F12\-III3 | Fam | ND | ND | Y | ND | ND | Homo | / | / | / | Severe hearing loss | aminoglycoside: No reported exposure |
| 4 | 1555 | m.1555A\>G | A1555G\-F12 | A1555G\-F12\-III8 | Fam | ND | ND | Y | ND | ND | Homo | / | / | / | Severe hearing loss | aminoglycoside: No reported exposure |
| 5 | 1555 | m.1555A\>G | A1555G\-F12 | A1555G\-F12\-II2 | Fam | ND | ND | Y | ND | ND | Homo | / | / | / | Moderate hearing loss | aminoglycoside: No reported exposure |
| 6 | 1555 | m.1555A\>G | A1555G\-F12 | A1555G\-F12\-III6 | Fam | M | N | ND | ND | ND | Homo | / | / | / | ND | Affected matrilineal relative in BJ109 Figure 1; filled but not individually described in text |

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