A1555G-F96

**Figure 1\. Pedigree diagram for family A1555G\-F96\.**

![](/media/202607/A1555G-F96-pedigree_20260701022552107557.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\-F96 | Spain | Nonsyndromic hearing loss with heteroplasmic and homoplasmic A1555G carriers | ND | 3 | 2003 | [12920080](https://pubmed.ncbi.nlm.nih.gov/12920080/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F96 from Spain with nonsyndromic hearing loss with heteroplasmic and homoplasmic a1555g carriers. The pedigree record reported ND unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was mild high\-frequency sensorineural hearing loss, sloping hearing loss at medium and high frequencies, bilateral tinnitus, sensorineural hearing loss affecting all frequencies, positional vertigo.

# 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\-F96 | A1555G\-F96\-II1 | Fam | M | ND | Y | A | 24 | 70\.93% | / | / | / | Mild high\-frequency sensorineural hearing loss | monozygotic twin; no reported aminoglycoside exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F96 | A1555G\-F96\-II2 | Fam | M | ND | Y | A | 24 | 64\.48% | / | / | / | Mild high\-frequency sensorineural hearing loss | monozygotic twin; no reported aminoglycoside exposure |
| 3 | 1555 | m.1555A\>G | A1555G\-F96 | A1555G\-F96\-II3 | Fam | M | ND | Y | A | 20 | 91\.76% | / | / | / | Sloping hearing loss at medium and high frequencies; bilateral tinnitus | no reported aminoglycoside exposure |
| 4 | 1555 | m.1555A\>G | A1555G\-F96 | A1555G\-F96\-I2 | Uninf | F | ND | Y | A | 45 | 70\.00% | / | / | / | Sensorineural hearing loss affecting all frequencies; positional vertigo | no reported aminoglycoside exposure |

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