A1555G-F122

**Figure 1\. Pedigree diagram for family A1555G\-F122\.**

![](/media/202607/A1555G-F122-pedigree_20260701021036689720.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\-F122 | China | Maternally inherited nonsyndromic hearing loss; aminoglycoside\-induced profound hearing loss in exposed members | ND | ND | 2004 | [14699607](https://pubmed.ncbi.nlm.nih.gov/14699607/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F122 from China with maternally inherited nonsyndromic hearing loss; aminoglycoside\-induced profound hearing loss in exposed members. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in all listed carriers; 0/8 carriers were affected, and the main clinical manifestation among affected carriers was not available.

# 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\-F122 | A1555G\-F122\-IV6 | Fam | ND | Y | ND | ND | ND | Homo | / | / | / | ND | exact hearing severity not text\-extracted; in large maternal hearing\-loss family; Affected patient |
| 2 | 1555 | m.1555A\>G | A1555G\-F122 | A1555G\-F122\-IV41 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | ND | Affected patient in Nanjing family; individual severity/onset not separately reported |
| 3 | 1555 | m.1555A\>G | A1555G\-F122 | A1555G\-F122\-IV43 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | ND | Affected patient in Nanjing family; individual severity/onset not separately reported |
| 4 | 1555 | m.1555A\>G | A1555G\-F122 | A1555G\-F122\-IV46 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | ND | Affected patient in Nanjing family; individual severity/onset not separately reported |
| 5 | 1555 | m.1555A\>G | A1555G\-F122 | A1555G\-F122\-IV47 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | ND | Affected patient in Nanjing family; individual severity/onset not separately reported |
| 6 | 1555 | m.1555A\>G | A1555G\-F122 | A1555G\-F122\-V130 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | ND | Affected patient in Nanjing family; individual severity/onset not separately reported |
| 7 | 1555 | m.1555A\>G | A1555G\-F122 | A1555G\-F122\-VI5 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | ND | Affected patient in Nanjing family; individual severity/onset not separately reported |
| 8 | 1555 | m.1555A\>G | A1555G\-F122 | A1555G\-F122\-VI6 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | ND | Affected patient in Nanjing family; individual severity/onset not separately reported |

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