A1555G-F323

**Figure 1\. Pedigree diagram for family A1555G\-F323\.**

![](/media/202607/A1555G-F323-pedigree_20260701021946804294.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\-F323 | China | Aminoglycoside\-induced and nonsyndromic hearing loss | ND | ND | 2005 | [15841390](https://pubmed.ncbi.nlm.nih.gov/15841390/) | Family C |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F323 from China with aminoglycoside\-induced and nonsyndromic hearing loss. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was hearing impaired with.

# 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\-F323 | A1555G\-F323\-III1 | Fam | F | Y | Y | ND | ND | Homo | / | / | / | Hearing impaired with | Original carrier ID: III\-1\-Subject\-27; Fig.2 Family C proband III\-1 / subject \#27; aminoglycoside exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F323 | A1555G\-F323\-III2 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | Hearing impaired with | Original carrier ID: III\-2\-Subject\-9; Fig.2 Family C proband III\-2 / subject \#9; aminoglycoside exposure |

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