A1555G-F65

**Figure 1\. Pedigree diagram for family A1555G\-F65\.**

![](/media/202607/A1555G-F65-pedigree_20260701022253805061.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\-F65 | Tunisia | nonsyndromic hearing loss | 2 | 3 | 2006 | [16406239](https://pubmed.ncbi.nlm.nih.gov/16406239/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F65 from Tunisia with nonsyndromic hearing loss. The pedigree record reported 2 unaffected and 3 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 4/6 carriers were affected, and the main clinical manifestation among affected carriers was congenital profound deafness, unilateral deafness in high frequency, high\-frequency deafness..

# 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\-F65 | A1555G\-F65\-V1 | Fam | F | N | N | ND | 11 | / | / | / | / | Healthy |  |
| 2 | 1555 | m.1555A\>G | A1555G\-F65 | A1555G\-F65\-V2 | Fam | F | N | N | ND | 18 | / | / | / | / | Healthy |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F65 | A1555G\-F65\-V3 | Fam | M | Y | Y | ND | 14 | / | / | / | / | Congenital profound deafness | Aminoglycoside exposure reported |
| 4 | 1555 | m.1555A\>G | A1555G\-F65 | A1555G\-F65\-V4 | Fam | M | N | Y | ND | 11 | / | / | / | / | Congenital profound deafness |  |
| 5 | 1555 | m.1555A\>G | A1555G\-F65 | A1555G\-F65\-V5 | Fam | M | N | Y | ND | 16 | / | / | / | / | Unilateral deafness in high frequency |  |
| 6 | 1555 | m.1555A\>G | A1555G\-F65 | A1555G\-F65\-IV1 | Fam | F | N | Y | ND | 38 | / | / | / | / | High\-frequency deafness. |  |

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