A1555G-F53

**Figure 1\. Pedigree diagram for family A1555G\-F53\.**

![](/media/202607/A1555G-F53-pedigree_20260701022013545325.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\-F53 | Belgium | Non\-syndromic hearing loss | 2 | 0 | 2008 | [18790089](https://pubmed.ncbi.nlm.nih.gov/18790089/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F53 from Belgium with non\-syndromic hearing loss. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was hearing loss.

# 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\-F53 | A1555G\-F53\-II1 | Fam | F | Y | Y | ND | ND | / | / | / | Homo(ND) | Hearing loss | Original carrier ID: A1555G\-subject\-1; aminoglycoside exposure reported |
| 2 | 1555 | m.1555A\>G | A1555G\-F53 | A1555G\-F53\-II2 | Fam | ND | N | N | ND | ND | / | / | / | Homo(ND) | Healthy | Normally hearing; no aminoglycoside exposure |
| 3 | 1555 | m.1555A\>G | A1555G\-F53 | A1555G\-F53\-II3 | Fam | ND | N | N | ND | ND | / | / | / | Homo(ND) | Healthy | Normally hearing; no aminoglycoside exposure |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).