A1555G-F97

**Figure 1\. Pedigree diagram for family A1555G\-F97\.**

![](/media/202607/A1555G-F97-pedigree_20260701022600888590.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\-F97 | Spain | Nonsyndromic hearing loss with heteroplasmic and homoplasmic A1555G carriers | 2 | 4 | 2003 | [12920080](https://pubmed.ncbi.nlm.nih.gov/12920080/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F97 from Spain with nonsyndromic hearing loss with heteroplasmic and homoplasmic a1555g carriers. The pedigree record reported 2 unaffected and 4 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 5/7 carriers were affected, and the main clinical manifestation among affected carriers was sloping hearing loss at medium and high frequencies, sensorineural hearing loss affecting all frequencies, hearing loss, sensorineural 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\-F97 | A1555G\-F97\-II1 | Fam | F | ND | Y | A | 29 | 94\.74% | / | / | / | Sloping hearing loss at medium and high frequencies | no reported aminoglycoside exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F97 | A1555G\-F97\-II3 | Fam | F | ND | Y | A | 26 | 96\.15% | / | / | / | Sensorineural hearing loss affecting all frequencies | no reported aminoglycoside exposure |
| 3 | 1555 | m.1555A\>G | A1555G\-F97 | A1555G\-F97\-I2 | Uninf | F | ND | Y | A | 55 | 100% | / | / | / | Hearing loss | Homoplasmic carrier with hearing loss; streptomycin exposure; history of |
| 4 | 1555 | m.1555A\>G | A1555G\-F97 | A1555G\-F97\-II5 | Fam | F | ND | N | A | 19 | 100% | / | / | / | Healthy |  |
| 5 | 1555 | m.1555A\>G | A1555G\-F97 | A1555G\-F97\-II6 | Fam | M | ND | N | A | 18 | 100% | / | / | / | Healthy |  |
| 6 | 1555 | m.1555A\>G | A1555G\-F97 | A1555G\-F97\-II2 | Fam | M | ND | Y | A | 28 | 100% | / | / | / | Sensorineural hearing loss | Homoplasmic carrier with severe sensorineural hearing loss |
| 7 | 1555 | m.1555A\>G | A1555G\-F97 | A1555G\-F97\-II4 | Fam | M | ND | Y | A | 22 | 100% | / | / | / | Sensorineural hearing loss | Homoplasmic carrier with sensorineural hearing loss |

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