A1555G-F108

**Figure 1\. Pedigree diagram for family A1555G\-F108\.**

![](/media/202607/A1555G-F108-pedigree_20260701020821384898.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\-F108 | Italy | Isolated idiopathic/nonsyndromic sensorineural hearing loss; some aminoglycoside\-associated | 3 | 0 | 2008 | [18215147](https://pubmed.ncbi.nlm.nih.gov/18215147/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F108 from Italy with isolated idiopathic/nonsyndromic sensorineural hearing loss; some aminoglycoside\-associated. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was mild\-to\-moderate isolated slowly progressive snhl, flat audiogram.

# 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\-F108 | A1555G\-F108\-II1 | Fam | F | Y | Y | ND | 34 | Homo | / | / | / | Mild\-to\-moderate isolated slowly progressive SNHL; flat audiogram | Original carrier ID: Patient\-2; onset age 15; no aminoglycoside exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F108 | A1555G\-F108\-II2 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Normal\-hearing mother carrying A1555G |
| 3 | 1555 | m.1555A\>G | A1555G\-F108 | A1555G\-F108\-II3 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Normal\-hearing sister carrying A1555G |
| 4 | 1555 | m.1555A\>G | A1555G\-F108 | A1555G\-F108\-II4 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Normal\-hearing daughter carrying A1555G |

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