A1555G-F110

**Figure 1\. Pedigree diagram for family A1555G\-F110\.**

![](/media/202607/A1555G-F110-pedigree_20260701020847499241.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\-F110 | Italy | Isolated idiopathic/nonsyndromic sensorineural hearing loss; some aminoglycoside\-associated | 0 | 2 | 2008 | [18215147](https://pubmed.ncbi.nlm.nih.gov/18215147/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F110 from Italy with isolated idiopathic/nonsyndromic sensorineural hearing loss; some aminoglycoside\-associated. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was severe bilateral snhl, severely hearing\-impaired.

# 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\-F110 | A1555G\-F110\-II1 | Fam | F | Y | Y | ND | 36 | Homo | / | / | / | Severe bilateral SNHL | Original carrier ID: Patient\-4; Aminoglycoside exposure reported; onset age 18; aminoglycoside exposure; no known |
| 2 | 1555 | m.1555A\>G | A1555G\-F110 | A1555G\-F110\-II2 | Fam | M | N | Y | ND | 3 | Homo | / | / | / | Severely hearing\-impaired | Original carrier ID: TwinSon\-1; aminoglycoside exposure; neonatal; twin son |
| 3 | 1555 | m.1555A\>G | A1555G\-F110 | A1555G\-F110\-II3 | Fam | M | N | Y | ND | 3 | Homo | / | / | / | Severely hearing\-impaired | Original carrier ID: TwinSon\-2; aminoglycoside exposure; neonatal; twin son |

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