A1555G-F104

**Figure 1\. Pedigree diagram for family A1555G\-F104\.**

![](/media/202607/A1555G-F104-pedigree_20260701020753883729.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\-F104 | Spain | Postlingual nonsyndromic hearing loss and unaffected A1555G carriers | 6 | 9 | 2006 | [16631122](https://pubmed.ncbi.nlm.nih.gov/16631122/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F104 from Spain with postlingual nonsyndromic hearing loss and unaffected a1555g carriers. The pedigree record reported 6 unaffected and 9 affected maternal relatives, and the carrier table includes 24 listed carriers. Homoplasmy was reported in all listed carriers; 18/24 carriers were affected, and the main clinical manifestation among affected carriers was mild hearing loss, pta 25, 25, profound hearing loss, pta 110, 110, severe hearing loss, pta 75\.

# 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\-F104 | A1555G\-F104\-II1 | Fam | F | ND | Y | ND | 21 | Homo | / | / | / | Mild hearing loss; PTA 25/25 | Original carrier ID: 1; onset 8; aminoglycoside: No |
| 2 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II2 | Fam | F | ND | Y | ND | 46 | Homo | / | / | / | Profound hearing loss; PTA 110/110 | Original carrier ID: 2; onset 8; aminoglycoside: Streptomycin |
| 3 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II3 | Fam | M | ND | Y | ND | 46 | Homo | / | / | / | Severe hearing loss; PTA 75/75 | Original carrier ID: 3; onset 16; aminoglycoside: No |
| 4 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II4 | Fam | M | ND | Y | ND | 40 | Homo | / | / | / | Profound hearing loss; PTA 110/116; tinnitus and dizziness | Original carrier ID: 4; onset 9; aminoglycoside: No |
| 5 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II5 | Fam | M | ND | Y | ND | 37 | Homo | / | / | / | Moderate hearing loss; PTA 50/61 | Original carrier ID: 5; onset 2; aminoglycoside: No |
| 6 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II6 | Fam | M | ND | Y | ND | 25 | Homo | / | / | / | Moderate hearing loss; PTA 44/40; tinnitus | Original carrier ID: 6; onset 10; aminoglycoside: Streptomycin |
| 7 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II7 | Fam | F | ND | Y | ND | 36 | Homo | / | / | / | Severe hearing loss; PTA 85/70 | Original carrier ID: 7; onset 3; aminoglycoside: No |
| 8 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II8 | Fam | M | ND | Y | ND | 31 | Homo | / | / | / | Moderate hearing loss; PTA 60/60; tinnitus | Original carrier ID: 8; onset 15; aminoglycoside: No |
| 9 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II9 | Fam | F | ND | Y | ND | 39 | Homo | / | / | / | Profound hearing loss; PTA 100/100; tinnitus | Original carrier ID: 9; onset 10; aminoglycoside: No |
| 10 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II10 | Fam | F | ND | Y | ND | 35 | Homo | / | / | / | Moderate hearing loss; PTA 50/55 | Original carrier ID: 10; onset 13; aminoglycoside: No |
| 11 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II11 | Fam | F | ND | Y | ND | 37 | Homo | / | / | / | Severe hearing loss; PTA 80/90 | Original carrier ID: 11; onset 1; aminoglycoside: No |
| 12 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II12 | Fam | M | ND | Y | ND | 32 | Homo | / | / | / | Moderate hearing loss; PTA 55/60 | Original carrier ID: 12; onset 1; aminoglycoside: No |
| 13 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II13 | Fam | F | ND | Y | ND | 25 | Homo | / | / | / | Severe hearing loss; PTA 90/90 | Original carrier ID: 13; onset 7; aminoglycoside: No |
| 14 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II14 | Fam | M | ND | Y | ND | 27 | Homo | / | / | / | Profound hearing loss; PTA 100/100; tinnitus | Original carrier ID: 14; onset 14; aminoglycoside: No |
| 15 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II15 | Fam | F | ND | Y | ND | 42 | Homo | / | / | / | Severe hearing loss; PTA 85/80; tinnitus and dizziness | Original carrier ID: 15; onset 10; aminoglycoside: Streptomycin |
| 16 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II16 | Fam | F | ND | Y | ND | 46 | Homo | / | / | / | Profound hearing loss; PTA 95/95; tinnitus | Original carrier ID: 16; onset 8; aminoglycoside: No |
| 17 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II17 | Fam | F | ND | Y | ND | 27 | Homo | / | / | / | Profound hearing loss; PTA not recorded | Original carrier ID: 17; onset 4; aminoglycoside: Streptomycin |
| 18 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II18 | Fam | F | ND | Y | ND | 57 | Homo | / | / | / | Moderate hearing loss; PTA 45/40; tinnitus | Original carrier ID: 18; onset 20; aminoglycoside: No |
| 19 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II19 | Fam | F | ND | N | ND | 9 | Homo | / | / | / | Healthy | Original carrier ID: 19 |
| 20 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II20 | Fam | F | ND | N | ND | 53 | Homo | / | / | / | Healthy | Original carrier ID: 20 |
| 21 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II21 | Fam | M | ND | N | ND | 12 | Homo | / | / | / | Healthy | Original carrier ID: 21 |
| 22 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II22 | Fam | F | ND | N | ND | 28 | Homo | / | / | / | Healthy | Original carrier ID: 22 |
| 23 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II23 | Fam | F | ND | N | ND | 30 | Homo | / | / | / | Healthy | Original carrier ID: 23 |
| 24 | 1555 | m.1555A\>G | A1555G\-F104 | A1555G\-F104\-II24 | Fam | F | ND | N | ND | 30 | Homo | / | / | / | Healthy | Original carrier ID: 24 |

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