A1555G-F58

**Figure 1\. Pedigree diagram for family A1555G\-F58\.**

![](/media/202607/A1555G-F58-pedigree_20260701022108390109.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\-F58 | South Africa | Streptomycin\-induced sensorineural deafness | 24 | 10 | 1997 | [9391883](https://pubmed.ncbi.nlm.nih.gov/9391883/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F58 from South Africa with streptomycin\-induced sensorineural deafness. The pedigree record reported 24 unaffected and 10 affected maternal relatives, and the carrier table includes 20 listed carriers. Homoplasmy was reported in 18/20 listed carriers; 11/20 carriers were affected, and the main clinical manifestation among affected carriers was deaf.

# 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\-F58 | A1555G\-F58\-II1 | Fam | F | ND | Y | ND | ND | Homo | / | / | / | Deaf | after streptomycin therapy |
| 2 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-II6 | Fam | F | ND | Y | ND | ND | Homo | / | / | / | Deaf | after streptomycin therapy |
| 3 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-II7 | Fam | F | ND | Y | ND | ND | Homo | / | / | / | Deaf | after streptomycin therapy |
| 4 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-II8 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy |  |
| 5 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-II9 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy |  |
| 6 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III1 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy |  |
| 7 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III41 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | Deaf | after streptomycin therapy |
| 8 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III42 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | Deaf | after streptomycin therapy |
| 9 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III43 | Fam | F | ND | Y | ND | ND | Homo | / | / | / | Deaf | after streptomycin therapy |
| 10 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III45 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy |  |
| 11 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III47 | Fam | F | ND | Y | ND | ND | Homo | / | / | / | Deaf | after streptomycin therapy |
| 12 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III49 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | Deaf | after streptomycin therapy |
| 13 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III50 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy |  |
| 14 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III51 | Fam | F | ND | Y | ND | ND | Homo | / | / | / | Deaf | after streptomycin therapy |
| 15 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-IV4 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy |  |
| 16 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-IV9 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy |  |
| 17 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-IV10 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy |  |
| 18 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-IV11 | Fam | M | ND | N | ND | ND | Homo | / | / | / | Healthy |  |
| 19 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III52 | Fam | M | ND | Y | ND | ND | / | / | / | / | Deaf | after streptomycin therapy |
| 20 | 1555 | m.1555A\>G | A1555G\-F58 | A1555G\-F58\-III53 | Fam | M | ND | Y | ND | ND | / | / | / | / | Deaf | after streptomycin therapy |

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