A1555G-F95

**Figure 1\. Pedigree diagram for family A1555G\-F95\.**

![](/media/202607/A1555G-F95-pedigree_20260701022543178532.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\-F95 | 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\-F95 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 sensorineural hearing loss affecting all frequencies, sloping, high\-frequency sensorineural hearing loss, moderate, severe high\-frequency 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\-F95 | A1555G\-F95\-II1 | Fam | M | ND | N | A | 32 | 9\.57% | / | / | / | Healthy |  |
| 2 | 1555 | m.1555A\>G | A1555G\-F95 | A1555G\-F95\-II2 | Fam | F | ND | N | A | 31 | 9\.31% | / | / | / | Healthy |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F95 | A1555G\-F95\-I2 | Uninf | F | ND | Y | A | 66 | 61\.03% | / | / | / | Sensorineural hearing loss affecting all frequencies | streptomycin exposure; history of |
| 4 | 1555 | m.1555A\>G | A1555G\-F95 | A1555G\-F95\-II3 | Fam | M | ND | Y | A | 28 | 75\.26% | / | / | / | Sloping/high\-frequency sensorineural hearing loss | no reported aminoglycoside exposure |
| 5 | 1555 | m.1555A\>G | A1555G\-F95 | A1555G\-F95\-II4 | Fam | M | ND | Y | A | 27 | 90\.43% | / | / | / | Moderate/severe high\-frequency sensorineural hearing loss | no reported aminoglycoside exposure |
| 6 | 1555 | m.1555A\>G | A1555G\-F95 | A1555G\-F95\-II5 | Fam | F | ND | Y | A | 26 | 96\.60% | / | / | / | Moderate/severe high\-frequency sensorineural hearing loss | no reported aminoglycoside exposure |
| 7 | 1555 | m.1555A\>G | A1555G\-F95 | A1555G\-F95\-II6 | Fam | M | ND | Y | A | 25 | 69\.78% | / | / | / | Moderate/severe high\-frequency sensorineural hearing loss | no reported aminoglycoside exposure |

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