A1555G-F113

**Figure 1\. Pedigree diagram for family A1555G\-F113\.**

![](/media/202607/A1555G-F113-pedigree_20260701020914347854.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\-F113 | Italy | Isolated idiopathic/nonsyndromic sensorineural hearing loss; some aminoglycoside\-associated | 2 | 0 | 2008 | [18215147](https://pubmed.ncbi.nlm.nih.gov/18215147/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F113 from Italy with isolated idiopathic/nonsyndromic sensorineural hearing loss; some aminoglycoside\-associated. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 1/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was severe bilateral down\-sloping snhl, onset age 6, type 2 diabetes and hypertension.

# 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\-F113 | A1555G\-F113\-II1 | Fam | F | Y | Y | ND | 49 | Homo | / | / | / | Severe bilateral down\-sloping SNHL; onset age 6; type 2 diabetes and hypertension | Original carrier ID: Patient\-7 |
| 2 | 1555 | m.1555A\>G | A1555G\-F113 | A1555G\-F113\-II2 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | Normal\-hearing son of confirmed A1555G\-positive mother; not molecularly tested |
| 3 | 1555 | m.1555A\>G | A1555G\-F113 | A1555G\-F113\-II3 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | Normal\-hearing son of confirmed A1555G\-positive mother; not molecularly tested |

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