A1555G-F121

**Figure 1\. Pedigree diagram for family A1555G\-F121\.**

![](/media/202607/A1555G-F121-pedigree_20260701021027992169.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\-F121 | Israel | Nonsyndromic deafness / aminoglycoside susceptibility model; no aminoglycoside exposure in listed subjects | 5 | 4 | 2000 | [10915767](https://pubmed.ncbi.nlm.nih.gov/10915767/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F121 from Israel with nonsyndromic deafness / aminoglycoside susceptibility model; no aminoglycoside exposure in listed subjects. The pedigree record reported 5 unaffected and 4 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in 0/10 listed carriers; 5/10 carriers were affected, and the main clinical manifestation among affected carriers was deaf\-mute with congenital severe deafness, severe hearing loss developed at age 20, moderate early\-onset 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\-F121 | A1555G\-F121\-II1 | Fam | ND | N | Y | ND | 20\-60 range | / | / | / | / | Deaf\-mute with congenital severe deafness | Original carrier ID: F6H; No aminoglycoside exposure |
| 2 | 1555 | m.1555A\>G | A1555G\-F121 | A1555G\-F121\-II2 | Fam | ND | N | Y | ND | 20\-60 range | / | / | / | / | Deaf\-mute with congenital severe deafness | Original carrier ID: F7D; No aminoglycoside exposure |
| 3 | 1555 | m.1555A\>G | A1555G\-F121 | A1555G\-F121\-II3 | Fam | ND | N | Y | ND | 20\-60 range | / | / | / | / | Deaf\-mute with congenital severe deafness | Original carrier ID: F12F; No aminoglycoside exposure |
| 4 | 1555 | m.1555A\>G | A1555G\-F121 | A1555G\-F121\-II4 | Fam | ND | N | Y | ND | 20\-60 range | / | / | / | / | Severe hearing loss developed at age 20 | Original carrier ID: F7C; No aminoglycoside exposure |
| 5 | 1555 | m.1555A\>G | A1555G\-F121 | A1555G\-F121\-II5 | Fam | ND | N | Y | ND | 20\-60 range | / | / | / | / | Moderate early\-onset hearing loss | Original carrier ID: F12J; No aminoglycoside exposure |
| 6 | 1555 | m.1555A\>G | A1555G\-F121 | A1555G\-F121\-II6 | Fam | ND | N | N | ND | 20\-60 range | / | / | / | / | Healthy | Original carrier ID: F7H; No aminoglycoside exposure |
| 7 | 1555 | m.1555A\>G | A1555G\-F121 | A1555G\-F121\-II7 | Fam | ND | N | N | ND | 20\-60 range | / | / | / | / | Healthy | Original carrier ID: F12C; No aminoglycoside exposure |
| 8 | 1555 | m.1555A\>G | A1555G\-F121 | A1555G\-F121\-II8 | Fam | ND | N | N | ND | 20\-60 range | / | / | / | / | Healthy | Original carrier ID: F12D; No aminoglycoside exposure |
| 9 | 1555 | m.1555A\>G | A1555G\-F121 | A1555G\-F121\-II9 | Fam | ND | N | N | ND | 20\-60 range | / | / | / | / | Healthy | Original carrier ID: F12E; No aminoglycoside exposure |
| 10 | 1555 | m.1555A\>G | A1555G\-F121 | A1555G\-F121\-II10 | Fam | ND | N | N | ND | 20\-60 range | / | / | / | / | Healthy | Original carrier ID: F12H; No aminoglycoside exposure |

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