A1555G-F114

**Figure 1\. Pedigree diagram for family A1555G\-F114\.**

![](/media/202607/A1555G-F114-pedigree_20260701020928816013.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\-F114 | Italy | Isolated idiopathic/nonsyndromic sensorineural hearing loss; some aminoglycoside\-associated | 0 | 4 | 2008 | [18215147](https://pubmed.ncbi.nlm.nih.gov/18215147/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F114 from Italy with isolated idiopathic/nonsyndromic sensorineural hearing loss; some aminoglycoside\-associated. The pedigree record reported 0 unaffected and 4 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was profound bilateral down\-sloping snhl, type 2 diabetes, hearing\-impaired carrying.

# 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\-F114 | A1555G\-F114\-II1 | Fam | M | Y | Y | ND | 66 | Homo | / | / | / | Profound bilateral down\-sloping SNHL; type 2 diabetes | Original carrier ID: Patient\-8; onset in childhood; no aminoglycoside exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F114 | A1555G\-F114\-II2 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing\-impaired carrying | A1555G; brother |
| 3 | 1555 | m.1555A\>G | A1555G\-F114 | A1555G\-F114\-II3 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing\-impaired carrying | A1555G; brother |
| 4 | 1555 | m.1555A\>G | A1555G\-F114 | A1555G\-F114\-II4 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing\-impaired carrying | A1555G; brother |
| 5 | 1555 | m.1555A\>G | A1555G\-F114 | A1555G\-F114\-II5 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Hearing\-impaired carrying | A1555G; brother |

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